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1. Erratum : Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, Kiel, Douglas P, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
Abstract: A correction to this article has been published and is linked from the publisher´s HTML version of the article.
Published: 2017
Full Text: View/download PDF

2. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
Full Text: View/download PDF

3. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
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4. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
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5. Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Author: Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, Kraft, Peter, Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, and Kraft, Peter
Abstract: BACKGROUND: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pulmonary traits has also been demonstrated, and at least 26 loci have been reproducibly associated with either FEV1 (forced expiratory volume in 1 second) or FEV1/FVC (FEV1/forced vital capacity). Although the main effects of smoking and genetic loci are well established, the question of potential gene-by-smoking interaction effect remains unanswered. The aim of the present study was to assess, using a genetic risk score approach, whether the effect of these 26 loci on pulmonary function is influenced by smoking. METHODS: We evaluated the interaction between smoking exposure, considered as either ever vs never or pack-years, and a 26-single nucleotide polymorphisms (SNPs) genetic risk score in relation to FEV1 or FEV1/FVC in 50 047 participants of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) and SpiroMeta consortia. RESULTS: We identified an interaction (βint = -0.036, 95% confidence interval, -0.040 to -0.032, P = 0.00057) between an unweighted 26 SNP genetic risk score and smoking status (ever/never) on the FEV1/FVC ratio. In interpreting this interaction, we showed that the genetic risk of falling below the FEV 1: /FVC threshold used to diagnose chronic obstructive pulmonary disease is higher among ever smokers than among never smokers. A replication analysis in two independent datasets, although not statistically significant, showed a similar trend in the interaction effect. CONCLUSIONS: This study highlights the benefit of using genetic risk scores for identifying interactions missed when studying individual SNPs and shows, for the first time, that persons with the highest genetic risk for low FEV1/FVC may be more susceptible to the deleterious effects of smoking.
Published: 2017
Full Text: View/download PDF

6. Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Author: Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, Kraft, Peter, Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, and Kraft, Peter
Abstract: BACKGROUND: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pulmonary traits has also been demonstrated, and at least 26 loci have been reproducibly associated with either FEV1 (forced expiratory volume in 1 second) or FEV1/FVC (FEV1/forced vital capacity). Although the main effects of smoking and genetic loci are well established, the question of potential gene-by-smoking interaction effect remains unanswered. The aim of the present study was to assess, using a genetic risk score approach, whether the effect of these 26 loci on pulmonary function is influenced by smoking. METHODS: We evaluated the interaction between smoking exposure, considered as either ever vs never or pack-years, and a 26-single nucleotide polymorphisms (SNPs) genetic risk score in relation to FEV1 or FEV1/FVC in 50 047 participants of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) and SpiroMeta consortia. RESULTS: We identified an interaction (βint = -0.036, 95% confidence interval, -0.040 to -0.032, P = 0.00057) between an unweighted 26 SNP genetic risk score and smoking status (ever/never) on the FEV1/FVC ratio. In interpreting this interaction, we showed that the genetic risk of falling below the FEV 1: /FVC threshold used to diagnose chronic obstructive pulmonary disease is higher among ever smokers than among never smokers. A replication analysis in two independent datasets, although not statistically significant, showed a similar trend in the interaction effect. CONCLUSIONS: This study highlights the benefit of using genetic risk scores for identifying interactions missed when studying individual SNPs and shows, for the first time, that persons with the highest genetic risk for low FEV1/FVC may be more susceptible to the deleterious effects of smoking.
Published: 2017
Full Text: View/download PDF

7. Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Author: Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, Kraft, Peter, Aschard, Hugues, Tobin, Martin D, Hancock, Dana B, Skurnik, David, Sood, Akshay, James, Alan, Vernon Smith, Albert, Manichaikul, Ani W, Campbell, Archie, Prins, Bram P, Hayward, Caroline, Loth, Daan W, Porteous, David J, Strachan, David P, Zeggini, Eleftheria, O'Connor, George T, Brusselle, Guy G, Boezen, H Marike, Schulz, Holger, Deary, Ian J, Hall, Ian P, Rudan, Igor, Kaprio, Jaakko, Wilson, James F, Wilk, Jemma B, Huffman, Jennifer E, Hua Zhao, Jing, de Jong, Kim, Lyytikäinen, Leo-Pekka, Wain, Louise V, Jarvelin, Marjo-Riitta, Kähönen, Mika, Fornage, Myriam, Polasek, Ozren, Cassano, Patricia A, Barr, R Graham, Rawal, Rajesh, Harris, Sarah E, Gharib, Sina A, Enroth, Stefan, Heckbert, Susan R, Lehtimäki, Terho, Gyllensten, Ulf B., Society Scientific Group, Understanding, Jackson, Victoria E, Gudnason, Vilmundur, Tang, Wenbo, Dupuis, Josée, Soler Artigas, María, Joshi, Amit D, London, Stephanie J, and Kraft, Peter
Abstract: BACKGROUND: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pulmonary traits has also been demonstrated, and at least 26 loci have been reproducibly associated with either FEV1 (forced expiratory volume in 1 second) or FEV1/FVC (FEV1/forced vital capacity). Although the main effects of smoking and genetic loci are well established, the question of potential gene-by-smoking interaction effect remains unanswered. The aim of the present study was to assess, using a genetic risk score approach, whether the effect of these 26 loci on pulmonary function is influenced by smoking. METHODS: We evaluated the interaction between smoking exposure, considered as either ever vs never or pack-years, and a 26-single nucleotide polymorphisms (SNPs) genetic risk score in relation to FEV1 or FEV1/FVC in 50 047 participants of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) and SpiroMeta consortia. RESULTS: We identified an interaction (βint = -0.036, 95% confidence interval, -0.040 to -0.032, P = 0.00057) between an unweighted 26 SNP genetic risk score and smoking status (ever/never) on the FEV1/FVC ratio. In interpreting this interaction, we showed that the genetic risk of falling below the FEV 1: /FVC threshold used to diagnose chronic obstructive pulmonary disease is higher among ever smokers than among never smokers. A replication analysis in two independent datasets, although not statistically significant, showed a similar trend in the interaction effect. CONCLUSIONS: This study highlights the benefit of using genetic risk scores for identifying interactions missed when studying individual SNPs and shows, for the first time, that persons with the highest genetic risk for low FEV1/FVC may be more susceptible to the deleterious effects of smoking.
Published: 2017
Full Text: View/download PDF

8. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei
Abstract: A correction to this article has been published and is linked from the HTML version of this article.
Published: 2017

9. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10-8) or suggestively genome wide (p < 2.3 × 10-6). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
Published: 2017

10. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M.C., Demissie, S., Hsu, Y.H., Yerges-Armstrong, L.M., Chou, W.C., Stolk, L., Livshits, G., Broer, L., Johnson, T., Koller, D.L., Kutalik, Z., Luan, J., Malkin, I., Ried, J.S., Smith, A.V., Thorleifsson, G., Vandenput, L., Hua Zhao, J., Zhang, W., Aghdassi, A., Åkesson, K., Amin, N., Baier, L.J., Barroso, I., Bennett, D.A., Bertram, L., Biffar, R., Bochud, M., Boehnke, M., Borecki, I.B., Buchman, A.S., Byberg, L., Campbell, H., Campos Obanda, N., Cauley, J.A., Cawthon, P.M., Cederberg, H., Chen, Z., Cho, N.H., Jin Choi, H., Claussnitzer, M., Collins, F., Cummings, S.R., De Jager, P.L., Demuth, I., Dhonukshe-Rutten, RAM, Diatchenko, L., Eiriksdottir, G., Enneman, A.W., Erdos, M., Eriksson, J.G., Eriksson, J., Estrada, K., Evans, D.S., Feitosa, M.F., Fu, M., Garcia, M., Gieger, C., Girke, T., Glazer, N.L., Grallert, H., Grewal, J., Han, B.G., Hanson, R.L., Hayward, C., Hofman, A., Hoffman, E.P., Homuth, G., Hsueh, W.C., Hubal, M.J., Hubbard, A., Huffman, K.M., Husted, L.B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J.O., Jordan, J.M., Jula, A., Karlsson, M., Khaw, K.T., Kilpeläinen, T.O., Klopp, N., Kloth, JSL, Koistinen, H.A., Kraus, W.E., Kritchevsky, S., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B.L., Launer, L.J., Lee, J.Y., Lerch, M.M., Lewis, J.R., Lind, L., Lindgren, C., Liu, Y., Liu, T., Ljunggren, Ö., Lorentzon, M., Luben, R.N., Maixner, W., McGuigan, F.E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellström, D., Melov, S., Michaëlsson, K., Mitchell, B.D., Morris, A.P., Mosekilde, L., Newman, A., Nielson, C.M., O'Connell, J.R., Oostra, B.A., Orwoll, E.S., Palotie, A., Parker, S., Peacock, M., Perola, M., Peters, A., Polasek, O., Prince, R.L., Räikkönen, K., Ralston, S.H., Ripatti, S., Robbins, J.A., Rotter, J.I., Rudan, I., Salomaa, V., Satterfield, S., Schadt, E.E., Schipf, S., Scott, L., Sehmi, J., Shen, J., Soo Shin, C., Sigurdsson, G., Smith, S., Soranzo, N., Stančáková, A., Steinhagen-Thiessen, E., Streeten, E.A., Styrkarsdottir, U., Swart, KMA, Tan, S.T., Tarnopolsky, M.A., Thompson, P., Thomson, C.A., Thorsteinsdottir, U., Tikkanen, E., Tranah, G.J., Tuomilehto, J., van Schoor, N.M., Verma, A., Vollenweider, P., Völzke, H., Wactawski-Wende, J., Walker, M., Weedon, M.N., Welch, R., Wichmann, H.E., Widen, E., Williams, FMK, Wilson, J.F., Wright, N.C., Xie, W., Yu, L., Zhou, Y., Chambers, J.C., Döring, A., van Duijn, C.M., Econs, M.J., Gudnason, V., Kooner, J.S., Psaty, B.M., Spector, T.D., Stefansson, K., Rivadeneira, F., Uitterlinden, A.G., Wareham, N.J., Ossowski, V., Waterworth, D., Loos, RJF, Karasik, D., Harris, T.B., Ohlsson, C., Kiel, D.P., Zillikens, M.C., Demissie, S., Hsu, Y.H., Yerges-Armstrong, L.M., Chou, W.C., Stolk, L., Livshits, G., Broer, L., Johnson, T., Koller, D.L., Kutalik, Z., Luan, J., Malkin, I., Ried, J.S., Smith, A.V., Thorleifsson, G., Vandenput, L., Hua Zhao, J., Zhang, W., Aghdassi, A., Åkesson, K., Amin, N., Baier, L.J., Barroso, I., Bennett, D.A., Bertram, L., Biffar, R., Bochud, M., Boehnke, M., Borecki, I.B., Buchman, A.S., Byberg, L., Campbell, H., Campos Obanda, N., Cauley, J.A., Cawthon, P.M., Cederberg, H., Chen, Z., Cho, N.H., Jin Choi, H., Claussnitzer, M., Collins, F., Cummings, S.R., De Jager, P.L., Demuth, I., Dhonukshe-Rutten, RAM, Diatchenko, L., Eiriksdottir, G., Enneman, A.W., Erdos, M., Eriksson, J.G., Eriksson, J., Estrada, K., Evans, D.S., Feitosa, M.F., Fu, M., Garcia, M., Gieger, C., Girke, T., Glazer, N.L., Grallert, H., Grewal, J., Han, B.G., Hanson, R.L., Hayward, C., Hofman, A., Hoffman, E.P., Homuth, G., Hsueh, W.C., Hubal, M.J., Hubbard, A., Huffman, K.M., Husted, L.B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J.O., Jordan, J.M., Jula, A., Karlsson, M., Khaw, K.T., Kilpeläinen, T.O., Klopp, N., Kloth, JSL, Koistinen, H.A., Kraus, W.E., Kritchevsky, S., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B.L., Launer, L.J., Lee, J.Y., Lerch, M.M., Lewis, J.R., Lind, L., Lindgren, C., Liu, Y., Liu, T., Ljunggren, Ö., Lorentzon, M., Luben, R.N., Maixner, W., McGuigan, F.E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellström, D., Melov, S., Michaëlsson, K., Mitchell, B.D., Morris, A.P., Mosekilde, L., Newman, A., Nielson, C.M., O'Connell, J.R., Oostra, B.A., Orwoll, E.S., Palotie, A., Parker, S., Peacock, M., Perola, M., Peters, A., Polasek, O., Prince, R.L., Räikkönen, K., Ralston, S.H., Ripatti, S., Robbins, J.A., Rotter, J.I., Rudan, I., Salomaa, V., Satterfield, S., Schadt, E.E., Schipf, S., Scott, L., Sehmi, J., Shen, J., Soo Shin, C., Sigurdsson, G., Smith, S., Soranzo, N., Stančáková, A., Steinhagen-Thiessen, E., Streeten, E.A., Styrkarsdottir, U., Swart, KMA, Tan, S.T., Tarnopolsky, M.A., Thompson, P., Thomson, C.A., Thorsteinsdottir, U., Tikkanen, E., Tranah, G.J., Tuomilehto, J., van Schoor, N.M., Verma, A., Vollenweider, P., Völzke, H., Wactawski-Wende, J., Walker, M., Weedon, M.N., Welch, R., Wichmann, H.E., Widen, E., Williams, FMK, Wilson, J.F., Wright, N.C., Xie, W., Yu, L., Zhou, Y., Chambers, J.C., Döring, A., van Duijn, C.M., Econs, M.J., Gudnason, V., Kooner, J.S., Psaty, B.M., Spector, T.D., Stefansson, K., Rivadeneira, F., Uitterlinden, A.G., Wareham, N.J., Ossowski, V., Waterworth, D., Loos, RJF, Karasik, D., Harris, T.B., Ohlsson, C., and Kiel, D.P.
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2.3 × 10(-6)). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
Published: 2017

11. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei
Abstract: A correction to this article has been published and is linked from the HTML version of this article.
Published: 2017

12. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author: Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Zillikens, M Carola, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10-8) or suggestively genome wide (p < 2.3 × 10-6). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
Published: 2017

13. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Author: Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, Kiel, Douglas P, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2.3 × 10(-6)). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
Published: 2017

14. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer Singh, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amélie, Bragg-Gresham, Jennifer L, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao-wei, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pérusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stančáková, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin P, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert Jan, De Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tõnu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia A, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo Riitta, Jhun, Min A, Jørgensen, Marit E, Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stéphane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., Mckenzie, Colin A, McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, Dabeeru C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva K, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Günther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A., Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Marchand, Loic Le, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sørensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornélia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan L, Loos, Ruth J F, Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer Singh, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amélie, Bragg-Gresham, Jennifer L, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao-wei, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pérusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stančáková, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin P, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert Jan, De Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tõnu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia A, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo Riitta, Jhun, Min A, Jørgensen, Marit E, Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stéphane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., Mckenzie, Colin A, McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, Dabeeru C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva K, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Günther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A., Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Marchand, Loic Le, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sørensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornélia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan L, Loos, Ruth J F, Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017

15. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
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16. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Author: Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J.A., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., DIatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpelaïnen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia M., Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Raïkkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichman, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, Van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn M., Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, Kiel, Douglas P., Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J.A., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., DIatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpelaïnen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia M., Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Raïkkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichman, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, Van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn M., Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, and Kiel, Douglas P.
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10-8) or suggestively genome wide (p < 2.3 × 10-6). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.
Published: 2017

17. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Author: Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpeläinen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephen C.J., Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Räikkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichmann, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, Kiel, Douglas P., Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpeläinen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephen C.J., Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Räikkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichmann, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, and Kiel, Douglas P.
Abstract: A correction to this article has been published and is linked from the HTML version of this article.
Published: 2017

18. Genome-wide meta-analysis of common variant differences between men and women

Author: Boraska, Vesna, Jerončić, Ana, Colonna, Vincenza, Southam, Lorraine, Nyholt, Dale R., William Rayner, Nigel, Perry, John R.B., Toniolo, Daniela, Albrecht, Eva, Ang, Wei, Bandinelli, Stefania, Barbalic, Maja, Barroso, Inês, Beckmann, Jacques S., Biffar, Reiner, Boomsma, Dorret, Campbell, Harry, Corre, Tanguy, Erdmann, Jeanette, Esko, Tõnu, Fischer, Krista, Franceschini, Nora, Frayling, Timothy M., Girotto, Giorgia, Gonzalez, Juan R., Harris, Tamara B., Heath, Andrew C., Heid, Iris M., Hoffmann, Wolfgang, Hofman, Albert, Horikoshi, Momoko, Hua Zhao, Jing, Jackson, Anne U., Hottenga, Jouke-Jan, Jula, Antti, Kähönen, Mika, Khaw, Kay-Tee, Kiemeney, Lambertus A., Klopp, Norman, Kutalik, Zoltán, Lagou, Vasiliki, Launer, Lenore J., Lehtimäki, Terho, Lemire, Mathieu, Lokki, Marja-Liisa, Loley, Christina, Luan, Jian'an, Mangino, Massimo, Mateo Leach, Irene, Medland, Sarah E., Mihailov, Evelin, Montgomery, Grant W., Navis, Gerjan, Newnham, John, Nieminen, Markku S., Palotie, Aarno, Panoutsopoulou, Kalliope, Peters, Annette, Pirastu, Nicola, Polašek, Ozren, Rehnström, Karola, Ripatti, Samuli, Ritchie, Graham R.S., Rivadeneira, Fernando, Robino, Antonietta, Samani, Nilesh J., Shin, So-Youn, Sinisalo, Juha, Smit, Johannes H., Soranzo, Nicole, Stolk, Lisette, Swinkels, Dorine W., Tanaka, Toshiko, Teumer, Alexander, Tönjes, Anke, Traglia, Michela, Tuomilehto, Jaakko, Valsesia, Armand, van Gilst, Wiek H., van Meurs, Joyce B.J., Smith, Albert Vernon, Viikari, Jorma, Vink, Jacqueline M., Waeber, Gerard, Warrington, Nicole M., Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Zanke, Brent W., Zgaga, Lina, Boehnke, Michael, d'Adamo, Adamo Pio, de Geus, Eco, Demerath, Ellen W., den Heijer, Martin, Eriksson, Johan G., Ferrucci, Luigi, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Hengstenberg, Christian, Hudson, Thomas J., Järvelin, Marjo-Riitta, Kogevinas, Manolis, Loos, Ruth J.F., Martin, Nicholas G., Metspalu, Andres, Pennell, Craig E., Penninx, Brenda W., Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Schreiber, Stefan, Schunkert, Heribert, Spector, Tim D., Stumvoll, Michael, Uitterlinden, André G., Ulivi, Sheila, van der Harst, Pim, Vollenweider, Peter, Völzke, Henry, Wareham, Nicholas J., Wichmann, H.-Erich, Wilson, James F., Rudan, Igor, Xue, Yali, Zeggini, Eleftheria, Boraska, Vesna, Jerončić, Ana, Colonna, Vincenza, Southam, Lorraine, Nyholt, Dale R., William Rayner, Nigel, Perry, John R.B., Toniolo, Daniela, Albrecht, Eva, Ang, Wei, Bandinelli, Stefania, Barbalic, Maja, Barroso, Inês, Beckmann, Jacques S., Biffar, Reiner, Boomsma, Dorret, Campbell, Harry, Corre, Tanguy, Erdmann, Jeanette, Esko, Tõnu, Fischer, Krista, Franceschini, Nora, Frayling, Timothy M., Girotto, Giorgia, Gonzalez, Juan R., Harris, Tamara B., Heath, Andrew C., Heid, Iris M., Hoffmann, Wolfgang, Hofman, Albert, Horikoshi, Momoko, Hua Zhao, Jing, Jackson, Anne U., Hottenga, Jouke-Jan, Jula, Antti, Kähönen, Mika, Khaw, Kay-Tee, Kiemeney, Lambertus A., Klopp, Norman, Kutalik, Zoltán, Lagou, Vasiliki, Launer, Lenore J., Lehtimäki, Terho, Lemire, Mathieu, Lokki, Marja-Liisa, Loley, Christina, Luan, Jian'an, Mangino, Massimo, Mateo Leach, Irene, Medland, Sarah E., Mihailov, Evelin, Montgomery, Grant W., Navis, Gerjan, Newnham, John, Nieminen, Markku S., Palotie, Aarno, Panoutsopoulou, Kalliope, Peters, Annette, Pirastu, Nicola, Polašek, Ozren, Rehnström, Karola, Ripatti, Samuli, Ritchie, Graham R.S., Rivadeneira, Fernando, Robino, Antonietta, Samani, Nilesh J., Shin, So-Youn, Sinisalo, Juha, Smit, Johannes H., Soranzo, Nicole, Stolk, Lisette, Swinkels, Dorine W., Tanaka, Toshiko, Teumer, Alexander, Tönjes, Anke, Traglia, Michela, Tuomilehto, Jaakko, Valsesia, Armand, van Gilst, Wiek H., van Meurs, Joyce B.J., Smith, Albert Vernon, Viikari, Jorma, Vink, Jacqueline M., Waeber, Gerard, Warrington, Nicole M., Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Zanke, Brent W., Zgaga, Lina, Boehnke, Michael, d'Adamo, Adamo Pio, de Geus, Eco, Demerath, Ellen W., den Heijer, Martin, Eriksson, Johan G., Ferrucci, Luigi, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Hengstenberg, Christian, Hudson, Thomas J., Järvelin, Marjo-Riitta, Kogevinas, Manolis, Loos, Ruth J.F., Martin, Nicholas G., Metspalu, Andres, Pennell, Craig E., Penninx, Brenda W., Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Schreiber, Stefan, Schunkert, Heribert, Spector, Tim D., Stumvoll, Michael, Uitterlinden, André G., Ulivi, Sheila, van der Harst, Pim, Vollenweider, Peter, Völzke, Henry, Wareham, Nicholas J., Wichmann, H.-Erich, Wilson, James F., Rudan, Igor, Xue, Yali, and Zeggini, Eleftheria
Abstract: The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10−8) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ∼115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits
Published: 2017

19. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
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20. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Author: Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, Kiel, Douglas P, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2.3 × 10(-6)). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
Published: 2017

21. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer Singh, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amélie, Bragg-Gresham, Jennifer L, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao-wei, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pérusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stančáková, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin P, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert Jan, De Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tõnu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia A, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo Riitta, Jhun, Min A, Jørgensen, Marit E, Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stéphane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., Mckenzie, Colin A, McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, Dabeeru C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva K, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Günther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A., Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Marchand, Loic Le, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sørensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornélia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan L, Loos, Ruth J F, Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer Singh, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amélie, Bragg-Gresham, Jennifer L, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao-wei, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pérusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stančáková, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin P, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert Jan, De Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tõnu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia A, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo Riitta, Jhun, Min A, Jørgensen, Marit E, Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stéphane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., Mckenzie, Colin A, McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, Dabeeru C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva K, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Günther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A., Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Marchand, Loic Le, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sørensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornélia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan L, Loos, Ruth J F, Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017

22. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, Janina S, Jeff M, Janina, Chu, Audrey Y, Bragg-Gresham, Jennifer L, van Dongen, Jenny, Huffman, Jennifer E, Ahluwalia, Tarun Veer Singh, Cadby, Gemma, Eklund, Niina, Eriksson, Joel, Esko, Tõnu, Feitosa, Mary F, Goel, Anuj, Gorski, Mathias, Hayward, Caroline, Heard-Costa, Nancy L, Jackson, Anne U, Jokinen, Eero, Kanoni, Stavroula, Kristiansson, Kati, Kutalik, Zoltán, Lahti, Jari, Luan, Jian'an, Mägi, Reedik, Mahajan, Anubha, Mangino, Massimo, Medina-Gomez, Carolina, Monda, Keri L, Nolte, Ilja M, Pérusse, Louis, Prokopenko, Inga, Qi, Lu, Rose, Lynda M, Salvi, Erika, Smith, Megan T, Snieder, Harold, Stančáková, Alena, Ju Sung, Yun, Tachmazidou, Ioanna, Teumer, Alexander, Thorleifsson, Gudmar, van der Harst, Pim, Walker, Ryan W, Wang, Sophie R, Wild, Sarah H, Willems, Sara M, Wong, Andrew, Zhang, Weihua, Albrecht, Eva, Couto Alves, Alexessander, Bakker, Stephan J L, Barlassina, Cristina, Bartz, Traci M, Beilby, John, Bellis, Claire, Bergman, Richard N, Bergmann, Sven, Blangero, John, Blüher, Matthias, Boerwinkle, Eric, Bonnycastle, Lori L, Bornstein, Stefan R, Bruinenberg, Marcel, Campbell, Harry, Chen, Yii-Der Ida, Chiang, Charleston W K, Chines, Peter S, Collins, Francis S, Cucca, Fracensco, Cupples, L Adrienne, D'Avila, Francesca, de Geus, Eco J C, Dedoussis, George, Dimitriou, Maria, Döring, Angela, Eriksson, Johan G, Farmaki, Aliki-Eleni, Farrall, Martin, Ferreira, Teresa, Fischer, Krista, Forouhi, Nita G, Friedrich, Nele, Gjesing, Anette Marianne Prior, Glorioso, Nicola, Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Gräßler, Jürgen, Grewal, Jagvir, Hamsten, Anders, Harder, Marie Neergaard, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas, Hattersley, Andrew Tym, Havulinna, Aki S, Heliövaara, Markku, Hillege, Hans, Hofman, Albert, Holmen, Oddgeir, Homuth, Georg, Hottenga, Jouke-Jan, Hui, Jennie, Husemoen, Lise Lotte, Hysi, Pirro G, Isaacs, Aaron, Ittermann, Till, Jalilzadeh, Shapour, James, Alan L, Jørgensen, Torben, Jousilahti, Pekka, Jula, Antti, Marie Justesen, Johanne, Justice, Anne E, Kähönen, Mika, Karaleftheri, Maria, Tee Khaw, Kay, Keinanen-Kiukaanniemi, Sirkka M, Kinnunen, Leena, Knekt, Paul B, Koistinen, Heikki A, Kolcic, Ivana, Kooner, Ishminder K, Koskinen, Seppo, Kovacs, Peter, Kyriakou, Theodosios, Laitinen, Tomi, Langenberg, Claudia, Lewin, Alexandra M, Lichtner, Peter, Lindgren, Cecilia M, Lindström, Jaana, Linneberg, Allan, Lorbeer, Roberto, Lorentzon, Mattias, Luben, Robert, Lyssenko, Valeriya, Männistö, Satu, Manunta, Paolo, Leach, Irene Mateo, McArdle, Wendy L, Mcknight, Barbara, Mohlke, Karen L, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Montasser, May E, Morris, Andrew P, Müller, Gabriele, Musk, Arthur W, Narisu, Narisu, Ong, Ken K, Oostra, Ben A, Osmond, Clive, Palotie, Aarno, Pankow, James S, Paternoster, Lavinia, Penninx, Brenda W, Pichler, Irene, Pilia, Maria G, Polašek, Ozren, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rayner, Nigel W, Ribel-Madsen, Rasmus, Rice, Treva K, Richards, Marcus, Ridker, Paul M, Rivadeneira, Fernando, Ryan, Kathy A, Sanna, Serena, Sarzynski, Mark A, Scholtens, Salome, Scott, Robert A, Sebert, Sylvain, Southam, Lorraine, Sparsø, Thomas Hempel, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stolk, Ronald P, Strauch, Konstantin, Stringham, Heather M, Swertz, Morris A, Swift, Amy J, Tönjes, Anke, Tsafantakis, Emmanouil, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vandenput, Liesbeth, Vartiainen, Erkki, Venturini, Cristina, Verweij, Niek, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Vonk, Judith M, Waeber, Gérard, Widén, Elisabeth, Willemsen, Gonneke, Wilsgaard, Tom, Winkler, Thomas W, Wright, Alan F, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Carola Zillikens, M, Boomsma, Dorret I, Bouchard, Claude, Chambers, John C, Chasman, Daniel I, Cusi, Daniele, Gansevoort, Ron T, Gieger, Christian, Hansen, Torben, Hicks, Andrew A, Hu, Frank, Hveem, Kristian, Jarvelin, Marjo-Riitta, Kajantie, Eero, Kooner, Jaspal S, Kuh, Diana, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lehtimäki, Terho, Metspalu, Andres, Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J, Palmer, Lyle J, Pedersen, Oluf, Perola, Markus, Peters, Annette, Psaty, Bruce M, Puolijoki, Hannu, Rauramaa, Rainer, Rudan, Igor, Salomaa, Veikko, Schwarz, Peter E H, Shudiner, Alan R, Smit, Jan H, Sørensen, Thorkild I A, Spector, Timothy D, Stefansson, Kari, Stumvoll, Michael, Tremblay, Angelo, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, Völker, Uwe, Vollenweider, Peter, Wareham, Nicholas J, Watkins, Hugh, Wilson, James F, Zeggini, Eleftheria, Abecasis, Goncalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, van Duijn, Cornelia M, Fox, Caroline, Groop, Leif C, Heid, Iris M, Hunter, David J, Kaplan, Robert C, McCarthy, Mark I, North, Kari E, O'Connell, Jeffrey R, Schlessinger, David, Thorsteinsdottir, Unnur, Strachan, David P, Frayling, Timothy, Hirschhorn, Joel N, Müller-Nurasyid, Martina, Loos, Ruth J F, Ried, Janina S, Jeff M, Janina, Chu, Audrey Y, Bragg-Gresham, Jennifer L, van Dongen, Jenny, Huffman, Jennifer E, Ahluwalia, Tarun Veer Singh, Cadby, Gemma, Eklund, Niina, Eriksson, Joel, Esko, Tõnu, Feitosa, Mary F, Goel, Anuj, Gorski, Mathias, Hayward, Caroline, Heard-Costa, Nancy L, Jackson, Anne U, Jokinen, Eero, Kanoni, Stavroula, Kristiansson, Kati, Kutalik, Zoltán, Lahti, Jari, Luan, Jian'an, Mägi, Reedik, Mahajan, Anubha, Mangino, Massimo, Medina-Gomez, Carolina, Monda, Keri L, Nolte, Ilja M, Pérusse, Louis, Prokopenko, Inga, Qi, Lu, Rose, Lynda M, Salvi, Erika, Smith, Megan T, Snieder, Harold, Stančáková, Alena, Ju Sung, Yun, Tachmazidou, Ioanna, Teumer, Alexander, Thorleifsson, Gudmar, van der Harst, Pim, Walker, Ryan W, Wang, Sophie R, Wild, Sarah H, Willems, Sara M, Wong, Andrew, Zhang, Weihua, Albrecht, Eva, Couto Alves, Alexessander, Bakker, Stephan J L, Barlassina, Cristina, Bartz, Traci M, Beilby, John, Bellis, Claire, Bergman, Richard N, Bergmann, Sven, Blangero, John, Blüher, Matthias, Boerwinkle, Eric, Bonnycastle, Lori L, Bornstein, Stefan R, Bruinenberg, Marcel, Campbell, Harry, Chen, Yii-Der Ida, Chiang, Charleston W K, Chines, Peter S, Collins, Francis S, Cucca, Fracensco, Cupples, L Adrienne, D'Avila, Francesca, de Geus, Eco J C, Dedoussis, George, Dimitriou, Maria, Döring, Angela, Eriksson, Johan G, Farmaki, Aliki-Eleni, Farrall, Martin, Ferreira, Teresa, Fischer, Krista, Forouhi, Nita G, Friedrich, Nele, Gjesing, Anette Marianne Prior, Glorioso, Nicola, Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Gräßler, Jürgen, Grewal, Jagvir, Hamsten, Anders, Harder, Marie Neergaard, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas, Hattersley, Andrew Tym, Havulinna, Aki S, Heliövaara, Markku, Hillege, Hans, Hofman, Albert, Holmen, Oddgeir, Homuth, Georg, Hottenga, Jouke-Jan, Hui, Jennie, Husemoen, Lise Lotte, Hysi, Pirro G, Isaacs, Aaron, Ittermann, Till, Jalilzadeh, Shapour, James, Alan L, Jørgensen, Torben, Jousilahti, Pekka, Jula, Antti, Marie Justesen, Johanne, Justice, Anne E, Kähönen, Mika, Karaleftheri, Maria, Tee Khaw, Kay, Keinanen-Kiukaanniemi, Sirkka M, Kinnunen, Leena, Knekt, Paul B, Koistinen, Heikki A, Kolcic, Ivana, Kooner, Ishminder K, Koskinen, Seppo, Kovacs, Peter, Kyriakou, Theodosios, Laitinen, Tomi, Langenberg, Claudia, Lewin, Alexandra M, Lichtner, Peter, Lindgren, Cecilia M, Lindström, Jaana, Linneberg, Allan, Lorbeer, Roberto, Lorentzon, Mattias, Luben, Robert, Lyssenko, Valeriya, Männistö, Satu, Manunta, Paolo, Leach, Irene Mateo, McArdle, Wendy L, Mcknight, Barbara, Mohlke, Karen L, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Montasser, May E, Morris, Andrew P, Müller, Gabriele, Musk, Arthur W, Narisu, Narisu, Ong, Ken K, Oostra, Ben A, Osmond, Clive, Palotie, Aarno, Pankow, James S, Paternoster, Lavinia, Penninx, Brenda W, Pichler, Irene, Pilia, Maria G, Polašek, Ozren, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rayner, Nigel W, Ribel-Madsen, Rasmus, Rice, Treva K, Richards, Marcus, Ridker, Paul M, Rivadeneira, Fernando, Ryan, Kathy A, Sanna, Serena, Sarzynski, Mark A, Scholtens, Salome, Scott, Robert A, Sebert, Sylvain, Southam, Lorraine, Sparsø, Thomas Hempel, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stolk, Ronald P, Strauch, Konstantin, Stringham, Heather M, Swertz, Morris A, Swift, Amy J, Tönjes, Anke, Tsafantakis, Emmanouil, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vandenput, Liesbeth, Vartiainen, Erkki, Venturini, Cristina, Verweij, Niek, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Vonk, Judith M, Waeber, Gérard, Widén, Elisabeth, Willemsen, Gonneke, Wilsgaard, Tom, Winkler, Thomas W, Wright, Alan F, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Carola Zillikens, M, Boomsma, Dorret I, Bouchard, Claude, Chambers, John C, Chasman, Daniel I, Cusi, Daniele, Gansevoort, Ron T, Gieger, Christian, Hansen, Torben, Hicks, Andrew A, Hu, Frank, Hveem, Kristian, Jarvelin, Marjo-Riitta, Kajantie, Eero, Kooner, Jaspal S, Kuh, Diana, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lehtimäki, Terho, Metspalu, Andres, Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J, Palmer, Lyle J, Pedersen, Oluf, Perola, Markus, Peters, Annette, Psaty, Bruce M, Puolijoki, Hannu, Rauramaa, Rainer, Rudan, Igor, Salomaa, Veikko, Schwarz, Peter E H, Shudiner, Alan R, Smit, Jan H, Sørensen, Thorkild I A, Spector, Timothy D, Stefansson, Kari, Stumvoll, Michael, Tremblay, Angelo, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, Völker, Uwe, Vollenweider, Peter, Wareham, Nicholas J, Watkins, Hugh, Wilson, James F, Zeggini, Eleftheria, Abecasis, Goncalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, van Duijn, Cornelia M, Fox, Caroline, Groop, Leif C, Heid, Iris M, Hunter, David J, Kaplan, Robert C, McCarthy, Mark I, North, Kari E, O'Connell, Jeffrey R, Schlessinger, David, Thorsteinsdottir, Unnur, Strachan, David P, Frayling, Timothy, Hirschhorn, Joel N, Müller-Nurasyid, Martina, and Loos, Ruth J F
Abstract: Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Published: 2016

23. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, Janina S, Jeff M, Janina, Chu, Audrey Y, Bragg-Gresham, Jennifer L, van Dongen, Jenny, Huffman, Jennifer E, Ahluwalia, Tarun Veer Singh, Cadby, Gemma, Eklund, Niina, Eriksson, Joel, Esko, Tõnu, Feitosa, Mary F, Goel, Anuj, Gorski, Mathias, Hayward, Caroline, Heard-Costa, Nancy L, Jackson, Anne U, Jokinen, Eero, Kanoni, Stavroula, Kristiansson, Kati, Kutalik, Zoltán, Lahti, Jari, Luan, Jian'an, Mägi, Reedik, Mahajan, Anubha, Mangino, Massimo, Medina-Gomez, Carolina, Monda, Keri L, Nolte, Ilja M, Pérusse, Louis, Prokopenko, Inga, Qi, Lu, Rose, Lynda M, Salvi, Erika, Smith, Megan T, Snieder, Harold, Stančáková, Alena, Ju Sung, Yun, Tachmazidou, Ioanna, Teumer, Alexander, Thorleifsson, Gudmar, van der Harst, Pim, Walker, Ryan W, Wang, Sophie R, Wild, Sarah H, Willems, Sara M, Wong, Andrew, Zhang, Weihua, Albrecht, Eva, Couto Alves, Alexessander, Bakker, Stephan J L, Barlassina, Cristina, Bartz, Traci M, Beilby, John, Bellis, Claire, Bergman, Richard N, Bergmann, Sven, Blangero, John, Blüher, Matthias, Boerwinkle, Eric, Bonnycastle, Lori L, Bornstein, Stefan R, Bruinenberg, Marcel, Campbell, Harry, Chen, Yii-Der Ida, Chiang, Charleston W K, Chines, Peter S, Collins, Francis S, Cucca, Fracensco, Cupples, L Adrienne, D'Avila, Francesca, de Geus, Eco J C, Dedoussis, George, Dimitriou, Maria, Döring, Angela, Eriksson, Johan G, Farmaki, Aliki-Eleni, Farrall, Martin, Ferreira, Teresa, Fischer, Krista, Forouhi, Nita G, Friedrich, Nele, Gjesing, Anette Marianne Prior, Glorioso, Nicola, Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Gräßler, Jürgen, Grewal, Jagvir, Hamsten, Anders, Harder, Marie Neergaard, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas, Hattersley, Andrew Tym, Havulinna, Aki S, Heliövaara, Markku, Hillege, Hans, Hofman, Albert, Holmen, Oddgeir, Homuth, Georg, Hottenga, Jouke-Jan, Hui, Jennie, Husemoen, Lise Lotte, Hysi, Pirro G, Isaacs, Aaron, Ittermann, Till, Jalilzadeh, Shapour, James, Alan L, Jørgensen, Torben, Jousilahti, Pekka, Jula, Antti, Marie Justesen, Johanne, Justice, Anne E, Kähönen, Mika, Karaleftheri, Maria, Tee Khaw, Kay, Keinanen-Kiukaanniemi, Sirkka M, Kinnunen, Leena, Knekt, Paul B, Koistinen, Heikki A, Kolcic, Ivana, Kooner, Ishminder K, Koskinen, Seppo, Kovacs, Peter, Kyriakou, Theodosios, Laitinen, Tomi, Langenberg, Claudia, Lewin, Alexandra M, Lichtner, Peter, Lindgren, Cecilia M, Lindström, Jaana, Linneberg, Allan, Lorbeer, Roberto, Lorentzon, Mattias, Luben, Robert, Lyssenko, Valeriya, Männistö, Satu, Manunta, Paolo, Leach, Irene Mateo, McArdle, Wendy L, Mcknight, Barbara, Mohlke, Karen L, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Montasser, May E, Morris, Andrew P, Müller, Gabriele, Musk, Arthur W, Narisu, Narisu, Ong, Ken K, Oostra, Ben A, Osmond, Clive, Palotie, Aarno, Pankow, James S, Paternoster, Lavinia, Penninx, Brenda W, Pichler, Irene, Pilia, Maria G, Polašek, Ozren, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rayner, Nigel W, Ribel-Madsen, Rasmus, Rice, Treva K, Richards, Marcus, Ridker, Paul M, Rivadeneira, Fernando, Ryan, Kathy A, Sanna, Serena, Sarzynski, Mark A, Scholtens, Salome, Scott, Robert A, Sebert, Sylvain, Southam, Lorraine, Sparsø, Thomas Hempel, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stolk, Ronald P, Strauch, Konstantin, Stringham, Heather M, Swertz, Morris A, Swift, Amy J, Tönjes, Anke, Tsafantakis, Emmanouil, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vandenput, Liesbeth, Vartiainen, Erkki, Venturini, Cristina, Verweij, Niek, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Vonk, Judith M, Waeber, Gérard, Widén, Elisabeth, Willemsen, Gonneke, Wilsgaard, Tom, Winkler, Thomas W, Wright, Alan F, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Carola Zillikens, M, Boomsma, Dorret I, Bouchard, Claude, Chambers, John C, Chasman, Daniel I, Cusi, Daniele, Gansevoort, Ron T, Gieger, Christian, Hansen, Torben, Hicks, Andrew A, Hu, Frank, Hveem, Kristian, Jarvelin, Marjo-Riitta, Kajantie, Eero, Kooner, Jaspal S, Kuh, Diana, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lehtimäki, Terho, Metspalu, Andres, Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J, Palmer, Lyle J, Pedersen, Oluf, Perola, Markus, Peters, Annette, Psaty, Bruce M, Puolijoki, Hannu, Rauramaa, Rainer, Rudan, Igor, Salomaa, Veikko, Schwarz, Peter E H, Shudiner, Alan R, Smit, Jan H, Sørensen, Thorkild I A, Spector, Timothy D, Stefansson, Kari, Stumvoll, Michael, Tremblay, Angelo, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, Völker, Uwe, Vollenweider, Peter, Wareham, Nicholas J, Watkins, Hugh, Wilson, James F, Zeggini, Eleftheria, Abecasis, Goncalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, van Duijn, Cornelia M, Fox, Caroline, Groop, Leif C, Heid, Iris M, Hunter, David J, Kaplan, Robert C, McCarthy, Mark I, North, Kari E, O'Connell, Jeffrey R, Schlessinger, David, Thorsteinsdottir, Unnur, Strachan, David P, Frayling, Timothy, Hirschhorn, Joel N, Müller-Nurasyid, Martina, Loos, Ruth J F, Ried, Janina S, Jeff M, Janina, Chu, Audrey Y, Bragg-Gresham, Jennifer L, van Dongen, Jenny, Huffman, Jennifer E, Ahluwalia, Tarun Veer Singh, Cadby, Gemma, Eklund, Niina, Eriksson, Joel, Esko, Tõnu, Feitosa, Mary F, Goel, Anuj, Gorski, Mathias, Hayward, Caroline, Heard-Costa, Nancy L, Jackson, Anne U, Jokinen, Eero, Kanoni, Stavroula, Kristiansson, Kati, Kutalik, Zoltán, Lahti, Jari, Luan, Jian'an, Mägi, Reedik, Mahajan, Anubha, Mangino, Massimo, Medina-Gomez, Carolina, Monda, Keri L, Nolte, Ilja M, Pérusse, Louis, Prokopenko, Inga, Qi, Lu, Rose, Lynda M, Salvi, Erika, Smith, Megan T, Snieder, Harold, Stančáková, Alena, Ju Sung, Yun, Tachmazidou, Ioanna, Teumer, Alexander, Thorleifsson, Gudmar, van der Harst, Pim, Walker, Ryan W, Wang, Sophie R, Wild, Sarah H, Willems, Sara M, Wong, Andrew, Zhang, Weihua, Albrecht, Eva, Couto Alves, Alexessander, Bakker, Stephan J L, Barlassina, Cristina, Bartz, Traci M, Beilby, John, Bellis, Claire, Bergman, Richard N, Bergmann, Sven, Blangero, John, Blüher, Matthias, Boerwinkle, Eric, Bonnycastle, Lori L, Bornstein, Stefan R, Bruinenberg, Marcel, Campbell, Harry, Chen, Yii-Der Ida, Chiang, Charleston W K, Chines, Peter S, Collins, Francis S, Cucca, Fracensco, Cupples, L Adrienne, D'Avila, Francesca, de Geus, Eco J C, Dedoussis, George, Dimitriou, Maria, Döring, Angela, Eriksson, Johan G, Farmaki, Aliki-Eleni, Farrall, Martin, Ferreira, Teresa, Fischer, Krista, Forouhi, Nita G, Friedrich, Nele, Gjesing, Anette Marianne Prior, Glorioso, Nicola, Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Gräßler, Jürgen, Grewal, Jagvir, Hamsten, Anders, Harder, Marie Neergaard, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas, Hattersley, Andrew Tym, Havulinna, Aki S, Heliövaara, Markku, Hillege, Hans, Hofman, Albert, Holmen, Oddgeir, Homuth, Georg, Hottenga, Jouke-Jan, Hui, Jennie, Husemoen, Lise Lotte, Hysi, Pirro G, Isaacs, Aaron, Ittermann, Till, Jalilzadeh, Shapour, James, Alan L, Jørgensen, Torben, Jousilahti, Pekka, Jula, Antti, Marie Justesen, Johanne, Justice, Anne E, Kähönen, Mika, Karaleftheri, Maria, Tee Khaw, Kay, Keinanen-Kiukaanniemi, Sirkka M, Kinnunen, Leena, Knekt, Paul B, Koistinen, Heikki A, Kolcic, Ivana, Kooner, Ishminder K, Koskinen, Seppo, Kovacs, Peter, Kyriakou, Theodosios, Laitinen, Tomi, Langenberg, Claudia, Lewin, Alexandra M, Lichtner, Peter, Lindgren, Cecilia M, Lindström, Jaana, Linneberg, Allan, Lorbeer, Roberto, Lorentzon, Mattias, Luben, Robert, Lyssenko, Valeriya, Männistö, Satu, Manunta, Paolo, Leach, Irene Mateo, McArdle, Wendy L, Mcknight, Barbara, Mohlke, Karen L, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Montasser, May E, Morris, Andrew P, Müller, Gabriele, Musk, Arthur W, Narisu, Narisu, Ong, Ken K, Oostra, Ben A, Osmond, Clive, Palotie, Aarno, Pankow, James S, Paternoster, Lavinia, Penninx, Brenda W, Pichler, Irene, Pilia, Maria G, Polašek, Ozren, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rayner, Nigel W, Ribel-Madsen, Rasmus, Rice, Treva K, Richards, Marcus, Ridker, Paul M, Rivadeneira, Fernando, Ryan, Kathy A, Sanna, Serena, Sarzynski, Mark A, Scholtens, Salome, Scott, Robert A, Sebert, Sylvain, Southam, Lorraine, Sparsø, Thomas Hempel, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stolk, Ronald P, Strauch, Konstantin, Stringham, Heather M, Swertz, Morris A, Swift, Amy J, Tönjes, Anke, Tsafantakis, Emmanouil, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vandenput, Liesbeth, Vartiainen, Erkki, Venturini, Cristina, Verweij, Niek, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Vonk, Judith M, Waeber, Gérard, Widén, Elisabeth, Willemsen, Gonneke, Wilsgaard, Tom, Winkler, Thomas W, Wright, Alan F, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Carola Zillikens, M, Boomsma, Dorret I, Bouchard, Claude, Chambers, John C, Chasman, Daniel I, Cusi, Daniele, Gansevoort, Ron T, Gieger, Christian, Hansen, Torben, Hicks, Andrew A, Hu, Frank, Hveem, Kristian, Jarvelin, Marjo-Riitta, Kajantie, Eero, Kooner, Jaspal S, Kuh, Diana, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lehtimäki, Terho, Metspalu, Andres, Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J, Palmer, Lyle J, Pedersen, Oluf, Perola, Markus, Peters, Annette, Psaty, Bruce M, Puolijoki, Hannu, Rauramaa, Rainer, Rudan, Igor, Salomaa, Veikko, Schwarz, Peter E H, Shudiner, Alan R, Smit, Jan H, Sørensen, Thorkild I A, Spector, Timothy D, Stefansson, Kari, Stumvoll, Michael, Tremblay, Angelo, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, Völker, Uwe, Vollenweider, Peter, Wareham, Nicholas J, Watkins, Hugh, Wilson, James F, Zeggini, Eleftheria, Abecasis, Goncalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, van Duijn, Cornelia M, Fox, Caroline, Groop, Leif C, Heid, Iris M, Hunter, David J, Kaplan, Robert C, McCarthy, Mark I, North, Kari E, O'Connell, Jeffrey R, Schlessinger, David, Thorsteinsdottir, Unnur, Strachan, David P, Frayling, Timothy, Hirschhorn, Joel N, Müller-Nurasyid, Martina, and Loos, Ruth J F
Abstract: Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Published: 2016

24. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Author: Wessel, Jennifer, Chu, Audrey Y, Willems, Sara M, Wang, Shuai, Yaghootkar, Hanieh, Brody, Jennifer A, Dauriz, Marco, Hivert, Marie-France, Raghavan, Sridharan, Lipovich, Leonard, Hidalgo, Bertha, Fox, Keolu, Huffman, Jennifer E, An, Ping, Lu, Yingchang, Rasmussen-Torvik, Laura J, Grarup, Niels, Ehm, Margaret G, Li, Li, Baldridge, Abigail S, Stančáková, Alena, Abrol, Ravinder, Besse, Céline, Boland, Anne, Bork-Jensen, Jette, Fornage, Myriam, Freitag, Daniel F, Garcia, Melissa E, Guo, Xiuqing, Hara, Kazuo, Isaacs, Aaron, Jakobsdottir, Johanna, Lange, Leslie A, Layton, Jill C, Li, Man, Hua Zhao, Jing, Meidtner, Karina, Morrison, Alanna C, Nalls, Mike A, Peters, Marjolein J, Sabater-Lleal, Maria, Schurmann, Claudia, Silveira, Angela, Smith, Albert V, Southam, Lorraine, Stoiber, Marcus H, Strawbridge, Rona J, Taylor, Kent D, V Varga, Tibor, Allin, Kristine H, Amin, Najaf, Aponte, Jennifer L, Aung, Tin, Barbieri, Caterina, Bihlmeyer, Nathan A, Boehnke, Michael, Bombieri, Cristina, Bowden, Donald W, Burns, Sean M, Chen, Yuning, Chen, Yii-DerI, Cheng, Ching-Yu, Correa, Adolfo, Czajkowski, Jacek, Dehghan, Abbas, Ehret, Georg B, Eiriksdottir, Gudny, Escher, Stefan A, Farmaki, Aliki-Eleni, Frånberg, Mattias, Gambaro, Giovanni, Giulianini, Franco, Goddard, William A, Goel, Anuj, Gottesman, Omri, Grove, Megan L, Gustafsson, Stefan, Hai, Yang, Hallmans, Göran, Heo, Jiyoung, Hoffmann, Per, Ikram, Mohammad K, Jensen, Richard A, Jørgensen, Marit E, Jørgensen, Torben, Karaleftheri, Maria, Khor, Chiea C, Kirkpatrick, Andrea, Kraja, Aldi T, Kuusisto, Johanna, Lange, Ethan M, Lee, I T, Lee, Wen-Jane, Leong, Aaron, Liao, Jiemin, Liu, Chunyu, Liu, Yongmei, Lindgren, Cecilia M, Linneberg, Allan, Malerba, Giovanni, Mamakou, Vasiliki, Marouli, Eirini, Maruthur, Nisa M, Matchan, Angela, McKean-Cowdin, Roberta, McLeod, Olga, Metcalf, Ginger A, Mohlke, Karen L, Muzny, Donna M, Ntalla, Ioanna, Palmer, Nicholette D, Pasko, Dorota, Peter, Andreas, Rayner, Nigel W, Renström, Frida, Rice, Ken, Sala, Cinzia F, Sennblad, Bengt, Serafetinidis, Ioannis, Smith, Jennifer A, Soranzo, Nicole, Speliotes, Elizabeth K, Stahl, Eli A, Stirrups, Kathleen, Tentolouris, Nikos, Thanopoulou, Anastasia, Torres, Mina, Traglia, Michela, Tsafantakis, Emmanouil, Javad, Sundas, Yanek, Lisa R, Zengini, Eleni, Becker, Diane M, Bis, Joshua C, Brown, James B, Adrienne Cupples, L, Hansen, Torben, Ingelsson, Erik, Karter, Andrew J, Lorenzo, Carlos, Mathias, Rasika A, Norris, Jill M, Peloso, Gina M, Sheu, Wayne H-H, Toniolo, Daniela, Vaidya, Dhananjay, Varma, Rohit, Wagenknecht, Lynne E, Boeing, Heiner, Bottinger, Erwin P, Dedoussis, George, Deloukas, Panos, Ferrannini, Ele, Franco, Oscar H, Franks, Paul, Gibbs, Richard A, Gudnason, Vilmundur, Hamsten, Anders, Harris, Tamara B, Hattersley, Andrew T, Hayward, Caroline, Hofman, Albert, Jansson, Jan-Håkan, Langenberg, Claudia, Launer, Lenore J, Levy, Daniel, Oostra, Ben A, O'Donnell, Christopher J, O'Rahilly, Stephen, Padmanabhan, Sandosh, Pankow, James S, Polasek, Ozren, Province, Michael A, Rich, Stephen S, Ridker, Paul M, Rudan, Igor, Schulze, Matthias B, Smith, Blair H, Uitterlinden, André G, Walker, Mark, Watkins, Hugh, Wong, Tien Y, Zeggini, Eleftheria, Laakso, Markku, Borecki, Ingrid B, Chasman, Daniel I, Pedersen, Oluf, Psaty, Bruce M, Shyong Tai, E, van Duijn, Cornelia M, Wareham, Nicholas J, Waterworth, Dawn M, Boerwinkle, Eric, Linda Kao, W H, Florez, Jose C, Loos, Ruth J F, Wilson, James G, Frayling, Timothy M, Siscovick, David S, Dupuis, Josée, Rotter, Jerome I, Meigs, James B, Scott, Robert A, Goodarzi, Mark O, Wessel, Jennifer, Chu, Audrey Y, Willems, Sara M, Wang, Shuai, Yaghootkar, Hanieh, Brody, Jennifer A, Dauriz, Marco, Hivert, Marie-France, Raghavan, Sridharan, Lipovich, Leonard, Hidalgo, Bertha, Fox, Keolu, Huffman, Jennifer E, An, Ping, Lu, Yingchang, Rasmussen-Torvik, Laura J, Grarup, Niels, Ehm, Margaret G, Li, Li, Baldridge, Abigail S, Stančáková, Alena, Abrol, Ravinder, Besse, Céline, Boland, Anne, Bork-Jensen, Jette, Fornage, Myriam, Freitag, Daniel F, Garcia, Melissa E, Guo, Xiuqing, Hara, Kazuo, Isaacs, Aaron, Jakobsdottir, Johanna, Lange, Leslie A, Layton, Jill C, Li, Man, Hua Zhao, Jing, Meidtner, Karina, Morrison, Alanna C, Nalls, Mike A, Peters, Marjolein J, Sabater-Lleal, Maria, Schurmann, Claudia, Silveira, Angela, Smith, Albert V, Southam, Lorraine, Stoiber, Marcus H, Strawbridge, Rona J, Taylor, Kent D, V Varga, Tibor, Allin, Kristine H, Amin, Najaf, Aponte, Jennifer L, Aung, Tin, Barbieri, Caterina, Bihlmeyer, Nathan A, Boehnke, Michael, Bombieri, Cristina, Bowden, Donald W, Burns, Sean M, Chen, Yuning, Chen, Yii-DerI, Cheng, Ching-Yu, Correa, Adolfo, Czajkowski, Jacek, Dehghan, Abbas, Ehret, Georg B, Eiriksdottir, Gudny, Escher, Stefan A, Farmaki, Aliki-Eleni, Frånberg, Mattias, Gambaro, Giovanni, Giulianini, Franco, Goddard, William A, Goel, Anuj, Gottesman, Omri, Grove, Megan L, Gustafsson, Stefan, Hai, Yang, Hallmans, Göran, Heo, Jiyoung, Hoffmann, Per, Ikram, Mohammad K, Jensen, Richard A, Jørgensen, Marit E, Jørgensen, Torben, Karaleftheri, Maria, Khor, Chiea C, Kirkpatrick, Andrea, Kraja, Aldi T, Kuusisto, Johanna, Lange, Ethan M, Lee, I T, Lee, Wen-Jane, Leong, Aaron, Liao, Jiemin, Liu, Chunyu, Liu, Yongmei, Lindgren, Cecilia M, Linneberg, Allan, Malerba, Giovanni, Mamakou, Vasiliki, Marouli, Eirini, Maruthur, Nisa M, Matchan, Angela, McKean-Cowdin, Roberta, McLeod, Olga, Metcalf, Ginger A, Mohlke, Karen L, Muzny, Donna M, Ntalla, Ioanna, Palmer, Nicholette D, Pasko, Dorota, Peter, Andreas, Rayner, Nigel W, Renström, Frida, Rice, Ken, Sala, Cinzia F, Sennblad, Bengt, Serafetinidis, Ioannis, Smith, Jennifer A, Soranzo, Nicole, Speliotes, Elizabeth K, Stahl, Eli A, Stirrups, Kathleen, Tentolouris, Nikos, Thanopoulou, Anastasia, Torres, Mina, Traglia, Michela, Tsafantakis, Emmanouil, Javad, Sundas, Yanek, Lisa R, Zengini, Eleni, Becker, Diane M, Bis, Joshua C, Brown, James B, Adrienne Cupples, L, Hansen, Torben, Ingelsson, Erik, Karter, Andrew J, Lorenzo, Carlos, Mathias, Rasika A, Norris, Jill M, Peloso, Gina M, Sheu, Wayne H-H, Toniolo, Daniela, Vaidya, Dhananjay, Varma, Rohit, Wagenknecht, Lynne E, Boeing, Heiner, Bottinger, Erwin P, Dedoussis, George, Deloukas, Panos, Ferrannini, Ele, Franco, Oscar H, Franks, Paul, Gibbs, Richard A, Gudnason, Vilmundur, Hamsten, Anders, Harris, Tamara B, Hattersley, Andrew T, Hayward, Caroline, Hofman, Albert, Jansson, Jan-Håkan, Langenberg, Claudia, Launer, Lenore J, Levy, Daniel, Oostra, Ben A, O'Donnell, Christopher J, O'Rahilly, Stephen, Padmanabhan, Sandosh, Pankow, James S, Polasek, Ozren, Province, Michael A, Rich, Stephen S, Ridker, Paul M, Rudan, Igor, Schulze, Matthias B, Smith, Blair H, Uitterlinden, André G, Walker, Mark, Watkins, Hugh, Wong, Tien Y, Zeggini, Eleftheria, Laakso, Markku, Borecki, Ingrid B, Chasman, Daniel I, Pedersen, Oluf, Psaty, Bruce M, Shyong Tai, E, van Duijn, Cornelia M, Wareham, Nicholas J, Waterworth, Dawn M, Boerwinkle, Eric, Linda Kao, W H, Florez, Jose C, Loos, Ruth J F, Wilson, James G, Frayling, Timothy M, Siscovick, David S, Dupuis, Josée, Rotter, Jerome I, Meigs, James B, Scott, Robert A, and Goodarzi, Mark O
Abstract: Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01 mmol l(-1), P=3.4 × 10(-12)), T2D risk (OR[95%CI]=0.86[0.76-0.96], P=0.010), early insulin secretion (β=-0.07±0.035 pmolinsulin mmolglucose(-1), P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l(-1), P=4.3 × 10(-4)). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 × 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (β=0.02±0.004 mmol l(-1), P=1.3 × 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
Published: 2015

25. Genetic studies of body mass index yield new insights for obesity biology

Author: Locke, Adam E, Kahali, Bratati, Berndt, Sonja I, Justice, Anne E, Pers, Tune H, Day, Felix R, Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L, Yang, Jian, Croteau-Chonka, Damien C, Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jian'an, Mägi, Reedik, Randall, Joshua C, Winkler, Thomas W, Wood, Andrew R, Workalemahu, Tsegaselassie, Faul, Jessica D, Smith, Jennifer A, Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K, Karjalainen, Juha, Schmidt, Ellen M, Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L, Bragg-Gresham, Jennifer L, Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B, Feenstra, Bjarke, Feitosa, Mary F, Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U, Kanoni, Stavroula, Kleber, Marcus E, Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Medland, Sarah E, Nalls, Michael A, Palmer, Cameron D, Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J, Prokopenko, Inga, Shungin, Dmitry, Stančáková, Alena, Strawbridge, Rona J, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V, Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Isaacs, Aaron, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M, Attwood, Antony P, Bandinelli, Stefania, Barrett, Amy, Bas, Isabelita N, Bellis, Claire, Bennett, Amanda J, Berne, Christian, Blagieva, Roza, Blüher, Matthias, Böhringer, Stefan, Bonnycastle, Lori L, Böttcher, Yvonne, Boyd, Heather A, Bruinenberg, Marcel, Caspersen, Ida H, Ida Chen, Yii-Der, Clarke, Robert, Warwick Daw, E, de Craen, Anton J M, Delgado, Graciela, Dimitriou, Maria, Doney, Alex S F, Eklund, Niina, Estrada, Karol, Eury, Elodie, Folkersen, Lasse, Fraser, Ross M, Garcia, Melissa E, Geller, Frank, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S, Golay, Alain, Goodall, Alison H, Gordon, Scott D, Gorski, Mathias, Grabe, Hans-Jörgen, Grallert, Harald, Grammer, Tanja B, Gräßler, Jürgen, Grönberg, Henrik, Groves, Christopher J, Gusto, Gaëlle, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A, Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L, Helmer, Quinta, Hengstenberg, Christian, Holmen, Oddgeir, Hottenga, Jouke-Jan, James, Alan L, Jeff, Janina M, Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Kinnunen, Leena, Koenig, Wolfgang, Koskenvuo, Markku, Kratzer, Wolfgang, Laitinen, Jaana, Lamina, Claudia, Leander, Karin, Lee, Nanette R, Lichtner, Peter, Lind, Lars, Lindström, Jaana, Sin Lo, Ken, Lobbens, Stéphane, Lorbeer, Roberto, Lu, Yingchang, Mach, François, Magnusson, Patrik K E, Mahajan, Anubha, McArdle, Wendy L, McLachlan, Stela, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Moayyeri, Alireza, Monda, Keri L, Morken, Mario A, Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, 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Haiman, Christopher A, Hamsten, Anders, Hui, Jennie, Hunter, David J, Hveem, Kristian, Kaplan, Robert C, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G, März, Winfried, Melbye, Mads, Metspalu, Andres, Moebus, Susanne, Munroe, Patricia B, Njølstad, Inger, Oostra, Ben A, Palmer, Colin N A, Pedersen, Nancy L, Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E, Saleheen, Danish, Sattar, Naveed, Schadt, Eric E, Schlessinger, David, Eline Slagboom, P, Snieder, Harold, Spector, Tim D, Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, van der Harst, Pim, Walker, Mark, Wallaschofski, Henri, Wareham, Nicholas J, Watkins, Hugh, Weir, David R, Wichmann, H-Erich, Wilson, James F, Zanen, Pieter, Borecki, Ingrid B, Deloukas, Panos, Fox, Caroline S, Heid, Iris M, O'Connell, Jeffrey R, Strachan, David P, Stefansson, Kari, van Duijn, Cornelia M, Abecasis, Gonçalo R, Franke, Lude, Frayling, Timothy M, McCarthy, Mark I, Visscher, Peter M, Scherag, André, Willer, Cristen J, Boehnke, Michael, Mohlke, Karen L, Lindgren, Cecilia M, Beckmann, Jacques S, Barroso, Inês, North, Kari E, Ingelsson, Erik, Hirschhorn, Joel N, Loos, Ruth J F, and Speliotes, Elizabeth K
Abstract: Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis., De fem sista författarna delar sistaförfattarskapet.
Published: 2015
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26. New genetic loci link adipose and insulin biology to body fat distribution

Author: Shungin, Dmitry, Winkler, Thomas W, Croteau-Chonka, Damien C, Ferreira, Teresa, Locke, Adam E, Mägi, Reedik, Strawbridge, Rona J, Pers, Tune H, Fischer, Krista, Justice, Anne E, Workalemahu, Tsegaselassie, Wu, Joseph M W, Buchkovich, Martin L, Heard-Costa, Nancy L, Roman, Tamara S, Drong, Alexander W, Song, Ci, Gustafsson, Stefan, Day, Felix R, Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jian'an, Randall, Joshua C, Scherag, André, Vedantam, Sailaja, Wood, Andrew R, Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M, Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L, Buyske, Steven, Demirkan, Ayse, Ehret, Georg B, Feitosa, Mary F, Goel, Anuj, Jackson, Anne U, Johnson, Toby, Kleber, Marcus E, Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D, Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J, Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V, Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M, Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J, Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B, Caspersen, Ida H, Clarke, Robert, Daw, E Warwick, Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S F, Eklund, Niina, Erdos, Michael R, Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S, Golay, Alain, Grallert, Harald, Grammer, Tanja B, Gräßler, Jürgen, Grewal, Jagvir, Groves, Christopher J, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A, Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L, Holmen, Oddgeir, Hunt, Steven C, Isaacs, Aaron, Ittermann, Till, James, Alan L, Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K, Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R, Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K E, Mahajan, Anubha, McArdle, Wendy L, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L, Mooijaart, Simon P, Mühleisen, Thomas W, Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A, Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M, Olden, Matthias, Rayner, Nigel W, Renstrom, Frida, Ried, Janina S, Robertson, Neil R, Rose, Lynda M, Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M, Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M, Sundström, Johan, Swertz, Morris A, Swift, Amy J, Syvänen, Ann-Christine, Tayo, Bamidele O, Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V A, Verweij, Niek, Vonk, Judith M, Waite, Lindsay L, Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K, Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P, Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G, Hedman, Åsa K, Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P, Ma, Baoshan, McKnight, Amy J, McPherson, Ruth, Metspalu, Andres, Min, Josine L, Moffatt, Miriam F, Montgomery, Grant W, Murabito, Joanne M, Nicholson, George, Nyholt, Dale R, Olsson, Christian, Perry, John R B, Reinmaa, Eva, Salem, Rany M, Sandholm, Niina, Schadt, Eric E, Scott, Robert A, Stolk, Lisette, Vallejo, Edgar E, Westra, Harm-Jan, Zondervan, Krina T, Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J L, Beilby, John, Bergman, Richard N, Blangero, John, Brown, Morris J, Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S, Claudi-Boehm, Simone, Collins, Francis S, Crawford, Dana C, Danesh, John, de Faire, Ulf, de Geus, Eco J C, Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G, Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G, Forrester, Terrence, Franco, Oscar H, Gansevoort, Ron T, Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A, Harris, Tamara B, Hattersley, Andrew T, Heliövaara, Markku, Hicks, Andrew A, Hingorani, Aroon D, Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E, Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M, Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M, Kooner, Jaspal S, Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T, Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A, Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C, McKenzie, Colin A, McKnight, Barbara, Musk, Arthur W, Möhlenkamp, Stefan, Morris, Andrew D, Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J, Ong, Ken K, Palmer, Lyle J, Penninx, Brenda W, Peters, Annette, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Ridker, Paul M, Ritchie, Marylyn D, Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J, Saramies, Jouko, Sarzynski, Mark A, Schwarz, Peter E H, Shuldiner, Alan R, Staessen, Jan A, Steinthorsdottir, Valgerdur, Stolk, Ronald P, Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F, Witteman, Jacqueline C, Adair, Linda S, Bochud, Murielle, Boehm, Bernhard O, Bornstein, Stefan R, Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Cooper, Richard S, Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B, Njølstad, Inger, Oostra, Ben A, Palmer, Colin N A, Pedersen, Nancy L, Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E, Saleheen, Danish, Sinisalo, Juha, Slagboom, P Eline, Snieder, Harold, Spector, Tim D, Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J, Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R, Assimes, Themistocles L, Berndt, Sonja I, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, Franke, Lude, Frayling, Timothy M, Groop, Leif C, Hunter, David J, Kaplan, Robert C, O'Connell, Jeffrey R, Qi, Lu, Schlessinger, David, Strachan, David P, Stefansson, Kari, van Duijn, Cornelia M, Willer, Cristen J, Visscher, Peter M, Yang, Jian, Hirschhorn, Joel N, Zillikens, M Carola, McCarthy, Mark I, Speliotes, Elizabeth K, North, Kari E, Fox, Caroline S, Barroso, Inês, Franks, Paul W, Ingelsson, Erik, Heid, Iris M, Loos, Ruth J F, Cupples, L Adrienne, Morris, Andrew P, Lindgren, Cecilia M, Mohlke, Karen L, Shungin, Dmitry, Winkler, Thomas W, Croteau-Chonka, Damien C, Ferreira, Teresa, Locke, Adam E, Mägi, Reedik, Strawbridge, Rona J, Pers, Tune H, Fischer, Krista, Justice, Anne E, Workalemahu, Tsegaselassie, Wu, Joseph M W, Buchkovich, Martin L, Heard-Costa, Nancy L, Roman, Tamara S, Drong, Alexander W, Song, Ci, Gustafsson, Stefan, Day, Felix R, Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jian'an, Randall, Joshua C, Scherag, André, Vedantam, Sailaja, Wood, Andrew R, Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M, Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L, Buyske, Steven, Demirkan, Ayse, Ehret, Georg B, Feitosa, Mary F, Goel, Anuj, Jackson, Anne U, Johnson, Toby, Kleber, Marcus E, Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D, Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J, Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V, Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M, Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J, Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B, Caspersen, Ida H, Clarke, Robert, Daw, E Warwick, Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S F, Eklund, Niina, Erdos, Michael R, Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S, Golay, Alain, Grallert, Harald, Grammer, Tanja B, Gräßler, Jürgen, Grewal, Jagvir, Groves, Christopher J, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A, Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L, Holmen, Oddgeir, Hunt, Steven C, Isaacs, Aaron, Ittermann, Till, James, Alan L, Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K, Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R, Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K E, Mahajan, Anubha, McArdle, Wendy L, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L, Mooijaart, Simon P, Mühleisen, Thomas W, Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A, Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M, Olden, Matthias, Rayner, Nigel W, Renstrom, Frida, Ried, Janina S, Robertson, Neil R, Rose, Lynda M, Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M, Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M, Sundström, Johan, Swertz, Morris A, Swift, Amy J, Syvänen, Ann-Christine, Tayo, Bamidele O, Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V A, Verweij, Niek, Vonk, Judith M, Waite, Lindsay L, Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K, Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P, Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G, Hedman, Åsa K, Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P, Ma, Baoshan, McKnight, Amy J, McPherson, Ruth, Metspalu, Andres, Min, Josine L, Moffatt, Miriam F, Montgomery, Grant W, Murabito, Joanne M, Nicholson, George, Nyholt, Dale R, Olsson, Christian, Perry, John R B, Reinmaa, Eva, Salem, Rany M, Sandholm, Niina, Schadt, Eric E, Scott, Robert A, Stolk, Lisette, Vallejo, Edgar E, Westra, Harm-Jan, Zondervan, Krina T, Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J L, Beilby, John, Bergman, Richard N, Blangero, John, Brown, Morris J, Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S, Claudi-Boehm, Simone, Collins, Francis S, Crawford, Dana C, Danesh, John, de Faire, Ulf, de Geus, Eco J C, Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G, Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G, Forrester, Terrence, Franco, Oscar H, Gansevoort, Ron T, Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A, Harris, Tamara B, Hattersley, Andrew T, Heliövaara, Markku, Hicks, Andrew A, Hingorani, Aroon D, Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E, Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M, Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M, Kooner, Jaspal S, Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T, Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A, Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C, McKenzie, Colin A, McKnight, Barbara, Musk, Arthur W, Möhlenkamp, Stefan, Morris, Andrew D, Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J, Ong, Ken K, Palmer, Lyle J, Penninx, Brenda W, Peters, Annette, Pramstaller, Peter P, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Ridker, Paul M, Ritchie, Marylyn D, Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J, Saramies, Jouko, Sarzynski, Mark A, Schwarz, Peter E H, Shuldiner, Alan R, Staessen, Jan A, Steinthorsdottir, Valgerdur, Stolk, Ronald P, Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F, Witteman, Jacqueline C, Adair, Linda S, Bochud, Murielle, Boehm, Bernhard O, Bornstein, Stefan R, Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Cooper, Richard S, Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B, Njølstad, Inger, Oostra, Ben A, Palmer, Colin N A, Pedersen, Nancy L, Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E, Saleheen, Danish, Sinisalo, Juha, Slagboom, P Eline, Snieder, Harold, Spector, Tim D, Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J, Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R, Assimes, Themistocles L, Berndt, Sonja I, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, Franke, Lude, Frayling, Timothy M, Groop, Leif C, Hunter, David J, Kaplan, Robert C, O'Connell, Jeffrey R, Qi, Lu, Schlessinger, David, Strachan, David P, Stefansson, Kari, van Duijn, Cornelia M, Willer, Cristen J, Visscher, Peter M, Yang, Jian, Hirschhorn, Joel N, Zillikens, M Carola, McCarthy, Mark I, Speliotes, Elizabeth K, North, Kari E, Fox, Caroline S, Barroso, Inês, Franks, Paul W, Ingelsson, Erik, Heid, Iris M, Loos, Ruth J F, Cupples, L Adrienne, Morris, Andrew P, Lindgren, Cecilia M, and Mohlke, Karen L
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015
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27. New genetic loci link adipose and insulin biology to body fat distribution

Author: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Shungin, Dmitry, Winkler, Thomas W., Croteau-Chonka, Damien C., Ferreira, Teresa, Locke, Adam E., Mägi, Reedik, Strawbridge, Rona J., Pers, Tune H., Fischer, Krista, Justice, Anne E., Workalemahu, Tsegaselassie, Wu, Joseph M. W., Buchkovich, Martin L., Heard-Costa, Nancy L., Roman, Tamara S., Drong, Alexander W., Song, Ci, Gustafsson, Stefan, Day, Felix R., Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jian’an, Randall, Joshua C., Scherag, André, Vedantam, Sailaja, Wood, Andrew R., Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Ehret, Georg B., Feitosa, Mary F., Goel, Anuj, Jackson, Anne U., Johnson, Toby, Kleber, Marcus E., Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V., Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B., Caspersen, Ida H., Clarke, Robert, Warwick Daw, E., Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S. F., Eklund, Niina, Erdos, Michael R., Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E., Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Grallert, Harald, Grammer, Tanja B., Gräßler, Jürgen, Grewal, Jagvir, Groves, Christopher J., Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L., Holmen, Oddgeir, Hunt, Steven C., Isaacs, Aaron, Ittermann, Till, James, Alan L., Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K., Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L., Mooijaart, Simon P., Mühleisen, Thomas W., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A., Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M., Olden, Matthias, Rayner, Nigel W., Renstrom, Frida, Ried, Janina S., Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M., Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V. A., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P., Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G., Hedman, Åsa K., Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McKnight, Amy J., McPherson, Ruth, Metspalu, Andres, Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Olsson, Christian, Perry, John R. B., Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Schadt, Eric E., Scott, Robert A., Stolk, Lisette, Vallejo, Edgar E., Westra, Harm-Jan, Zondervan, Krina T., Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Brown, Morris J., Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S., Claudi-Boehm, Simone, Collins, Francis S., Crawford, Dana C., Danesh, John, de Faire, Ulf, de Geus, Eco J. C., Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G., Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A., Harris, Tamara B., Hattersley, Andrew T., Heliövaara, Markku, Hicks, Andrew A., Hingorani, Aroon D., Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E., Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M., Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M., Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Musk, Arthur W., Möhlenkamp, Stefan, Morris, Andrew D., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Palmer, Lyle J., Penninx, Brenda W., Peters, Annette, Pramstaller, Peter P., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schwarz, Peter E. H., Shuldiner, Alan R., Staessen, Jan A., Steinthorsdottir, Valgerdur, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F., Witteman, Jacqueline C., Adair, Linda S., Bochud, Murielle, Boehm, Bernhard O., Bornstein, Stefan R., Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Cooper, Richard S., Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sinisalo, Juha, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R., Assimes, Themistocles L., Berndt, Sonja I., Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Franke, Lude, Frayling, Timothy M., Groop, Leif C., Hunter, David J., Kaplan, Robert C., O’Connell, Jeffrey R., Qi, Lu, Schlessinger, David, Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Willer, Cristen J., Visscher, Peter M., Yang, Jian, Hirschhorn, Joel N., Carola Zillikens, M., McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Fox, Caroline S., Barroso, Inês, Franks, Paul W., Ingelsson, Erik, Heid, Iris M., Loos, Ruth J. F., Cupples, L. Adrienne, Morris, Andrew P., Lindgren, Cecilia M., Mohlke, Karen L, Devuyst, Olivier, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Shungin, Dmitry, Winkler, Thomas W., Croteau-Chonka, Damien C., Ferreira, Teresa, Locke, Adam E., Mägi, Reedik, Strawbridge, Rona J., Pers, Tune H., Fischer, Krista, Justice, Anne E., Workalemahu, Tsegaselassie, Wu, Joseph M. 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C., Rice, Treva K., Ridker, Paul M., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schwarz, Peter E. H., Shuldiner, Alan R., Staessen, Jan A., Steinthorsdottir, Valgerdur, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F., Witteman, Jacqueline C., Adair, Linda S., Bochud, Murielle, Boehm, Bernhard O., Bornstein, Stefan R., Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Cooper, Richard S., Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. 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F., Cupples, L. Adrienne, Morris, Andrew P., Lindgren, Cecilia M., Mohlke, Karen L, and Devuyst, Olivier
Published: 2015

28. New genetic loci link adipose and insulin biology to body fat distribution.

Author: ADIPOGen Consortium, CARDIOGRAMplusC4D Consortium, CKDGen Consortium, GEFOS Consortium, GENIE Consortium, International Endogene Consortium, LifeLines Cohort Study, MAGIC Investigators, MuTHER Consortium, PAGE Consortium, ReproGen Consortium, GLGC, ICBP, Dastani, Z., Hivert, MF., Timpson, N., Perry, JR., Yuan, X., Scott, RA., Henneman, P., Heid, IM., Kizer, JR., Lyytikainen, LP., Fuchsberger, C., Tanaka, T., Morris, AP., Small, K., Isaacs, A., Beekman, M., Coassin, S., Lohman, K., Qi, L., Kanoni, S., Pankow, JS., Uh, HW., Wu, Y., Bidulescu, A., Rasmussen-Torvik, LJ., Greenwood, CM., Ladouceur, M., Grimsby, J., Manning, AK., Liu, CT., Kooner, J., Mooser, VE., Vollenweider, P., Kapur, KA., Chambers, J., Wareham, NJ., Langenberg, C., Frants, R., Willemsvan-vanDijk, K., Oostra, BA., Willems, SM., Lamina, C., Winkler, T., Psaty, BM., Tracy, RP., Brody, J., Chen, I., Viikari, J., Kähönen, M., Pramstaller, PP., Evans, DM., St Pourcain, B., Sattar, N., Wood, A., Bandinelli, S., Carlson, OD., Egan, JM., Böhringer, S., van Heemst, D., Kedenko, L., Kristiansson, K., Nuotio, ML., Loo, BM., Harris, T., Garcia, M., Kanaya, A., Haun, M., Klopp, N., Wichmann, HE., Deloukas, P., Katsareli, E., Couper, DJ., Duncan, BB., Kloppenburg, M., Adair, LS., Borja, JB., Wilson, JG., Musani, S., Guo, X., Johnson, T., Semple, R., Teslovich, TM., Allison, MA., Redline, S., Buxbaum, SG., Mohlke, KL., Meulenbelt, I., Ballantyne, CM., Dedoussis, GV., Hu, FB., Liu, Y., Paulweber, B., Spector, TD., Slagboom, P., Ferrucci, L., Jula, A., Perola, M., Raitakari, O., Florez, JC., Salomaa, V., Eriksson, JG., Frayling, TM., Hicks, AA., Lehtimäki, T., Smith, GD., Siscovick, DS., Kronenberg, F., van Duijn, C., Loos, RJ., Waterworth, DM., Meigs, JB., Dupuis, J., Richards, JB., Willenborg, C., Farrall, M., Assimes, TL., Thompson, JR., Ingelsson, E., Saleheen, D., Erdmann, J., Goldstein, BA., Stirrups, K., König, IR., Cazier, JB., Johansson£££Åsa£££ Å., Hall, AS., Lee, JY., Willer, CJ., 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Eklund, N., Erdos, M.R., Eury, E., Friedrich, N., Garcia, M.E., Giedraitis, V., Go, A.S., Golay, A., Grammer, T.B., Gräßler, J., Grewal, J., Groves, C.J., Hartman, C.A., Hassinen, M., Herzig, K.H., Helmer, Q., Hillege, H.L., Holmen, O., Hunt, S.C., Ittermann, T., James, A.L., Johansson, I., Juliusdottir, T., Kalafati, I.P., Kinnunen, L., Kooner, I.K., Lee, N.R., Lichtner, P., Lobbens, S., Magnusson, P.K., McArdle, W.L., Menni, C., Merger, S., Milani, L., Mills, R., Monda, K.L., Mooijaart, S.P., Mühleisen, T.W., Mulas, A., Nalls, M.A., Glorioso, N., Nolte, I.M., Rayner, N.W., Renstrom, F., Ried, J.S., Robertson, N.R., Rose, L.M., Scholtens, S., Seufferlein, T., Sitlani, C.M., Vernon Smith, A., Stringham, H.M., Sundström, J., Swertz, M.A., Swift, A.J., Syvänen, A.C., Tayo, B.O., Tomaschitz, A., Troffa, C., van Oort, F.V., Vonk, J.M., Waite, L.L., Wennauer, R., Wojczynski, M.K., Zhang, Q., Hua Zhao, J., Brennan, E.P., Choi, M., Gharavi, A.G., Hedman, Å.K., Hivert, M.F., Huang, J., Karpe, F., Kiryluk, K., Liang, L., Lifton, R.P., Ma, B., McKnight, A.J., McPherson, R., Min, J.L., Moffatt, M.F., Montgomery, G.W., Murabito, J.M., Nicholson, G., Nyholt, D.R., Olsson, C., Perry, J.R., Reinmaa, E., Salem, R.M., Schadt, E.E., Scott, R.A., Vallejo, E.E., Westra, H.J., Zondervan, K.T., Bakker, S.J., Beilby, J., Bergman, R.N., Blangero, J., Brown, M.J., Chines, P.S., Collins, F.S., Crawford, D.C., de Geus, E.J., Erbel, R., Eriksson, J.G., Ferrannini, E., Forouhi, N.G., Franco, O.H., Gansevoort, R.T., Haiman, C.A., Harris, T.B., Hattersley, A.T., Heliövaara, M., Hicks, A.A., Hingorani, A.D., Hoffmann, W., Humphries, S.E., Jarvelin, M.R., Johansen, B., Jousilahti, P., Jula, A.M., Keinanen-Kiukaanniemi, S.M., Kooner, J.S., Kraja, A.T., Lakka, T.A., Le Marchand, L., Lyssenko, V., Männistö, S., Marette, A., Matise, T.C., McKenzie, C.A., Musk, A.W., Möhlenkamp, S., Morris, A.D., Oldehinkel, A.J., Ong, K.K., Palmer, L.J., Penninx, B.W., Pramstaller, P.P., Raitakari, O.T., Rankinen, T., Rao, D.C., Rice, T.K., Ridker, P.M., Ritchie, M.D., Samani, N.J., Sarzynski, M.A., Schwarz, P.E., Shuldiner, A.R., Staessen, J.A., Steinthorsdottir, V., Stolk, R.P., Strauch, K., Tremblay, A., Vohl, M.C., Wilson, J.F., Witteman, J.C., Adair, L.S., Boehm, B.O., Bornstein, S.R., Bouchard, C., Cauchi, S., Caulfield, M.J., Chambers, J.C., Chasman, D.I., Cooper, R.S., Grabe, H.J., Jöckel, K.H., Munroe, P.B., Oostra, B.A., Palmer, C.N., Pedersen, N.L., Pérusse, L., Saaristo, T.E., Slagboom, P.E., Spector, T.D., Uitterlinden, A.G., Veronesi, G., Walker, M., Wareham, N.J., Wichmann, H.E., Abecasis, G.R., Assimes, T.L., Berndt, S.I., Borecki, I.B., Frayling, T.M., Groop, L.C., Hunter, D.J., Kaplan, R.C., O'Connell, J.R., Strachan, D.P., van Duijn, C.M., Willer, C.J., Visscher, P.M., Yang, J., Hirschhorn, J.N., Zillikens, M.C., McCarthy, M.I., Speliotes, E.K., North, K.E., Fox, C.S., Franks, P.W., Heid, I.M., Loos, R.J., Cupples, L.A., Morris, A.P., Lindgren, C.M., and Mohlke, K.L.
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015

29. Shiga toxins induce autophagic cell death in intestinal epithelial cells via the endoplasmic reticulum stress pathway

Author: Bin Tang, Qian Li, Na Li, Kun Wang, Jiang Gu, Jing-Xin Li, Quan-ming Zou, Feng-Cai Zhu, Xu-hu Mao, Xiu-hua Zhao, Hai-guang Wang, Yao Fang, Yin-ping Jia, Pan Zhu, Yong-jun Jiao, Wen-de Tong, Marissa Wang, Bin Tang, Qian Li, Na Li, Kun Wang, Jiang Gu, Jing-Xin Li, Quan-ming Zou, Feng-Cai Zhu, Xu-hu Mao, Xiu-hua Zhao, Hai-guang Wang, Yao Fang, Yin-ping Jia, Pan Zhu, Yong-jun Jiao, Wen-de Tong, and Marissa Wang
Published: 2015
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30. Shiga toxins induce autophagic cell death in intestinal epithelial cells via the endoplasmic reticulum stress pathway

Author: Bin Tang, Qian Li, Na Li, Kun Wang, Jiang Gu, Jing-Xin Li, Quan-ming Zou, Feng-Cai Zhu, Xu-hu Mao, Xiu-hua Zhao, Hai-guang Wang, Yao Fang, Yin-ping Jia, Pan Zhu, Yong-jun Jiao, Wen-de Tong, Marissa Wang, Bin Tang, Qian Li, Na Li, Kun Wang, Jiang Gu, Jing-Xin Li, Quan-ming Zou, Feng-Cai Zhu, Xu-hu Mao, Xiu-hua Zhao, Hai-guang Wang, Yao Fang, Yin-ping Jia, Pan Zhu, Yong-jun Jiao, Wen-de Tong, and Marissa Wang
Published: 2015
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31. Chemical constituents from Piper wallichii

Author: Yan-Ni Shi, Lian Yang, Jin-Hua Zhao, Yi-Ming Shi, Yan Qu, Hong-Tao Zhu, Dong Wang, Chong-Ren Yang, Xing-Cong Li, Min Xu, Ying-Jun Zhang, Yan-Ni Shi, Lian Yang, Jin-Hua Zhao, Yi-Ming Shi, Yan Qu, Hong-Tao Zhu, Dong Wang, Chong-Ren Yang, Xing-Cong Li, Min Xu, and Ying-Jun Zhang
Published: 2015
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32. Synthesis, structures, and fluorescent properties of azo anthranilic acid and its Cu(II), Co(II), and Ni(II) complexes

Author: Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, Qi-Hua Zhao, Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, and Qi-Hua Zhao
Published: 2015
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33. Synthesis, structures, and fluorescent properties of azo anthranilic acid and its Cu(II), Co(II), and Ni(II) complexes

Author: Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, Qi-Hua Zhao, Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, and Qi-Hua Zhao
Published: 2015
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34. A new Wells–Dawson organic–inorganic hybrid polytungstate containing dimeric silver coordination complexes: (Hpy)2[Ag2(phen)4]2(P2W18O62)

Author: Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, Jin-Xiao Mi, Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, and Jin-Xiao Mi
Published: 2015
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35. Genetic studies of body mass index yield new insights for obesity biology

Author: Locke, Adam E, Kahali, Bratati, Berndt, Sonja I, Justice, Anne E, Pers, Tune H, Day, Felix R, Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L, Yang, Jian, Croteau-Chonka, Damien C, Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jian'an, Mägi, Reedik, Randall, Joshua C, Winkler, Thomas W, Wood, Andrew R, Workalemahu, Tsegaselassie, Faul, Jessica D, Smith, Jennifer A, Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K, Karjalainen, Juha, Schmidt, Ellen M, Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L, Bragg-Gresham, Jennifer L, Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B, Feenstra, Bjarke, Feitosa, Mary F, Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U, Schwarz, Peter E H, Melbye, Mads, Njølstad, Inger, Locke, Adam E, Kahali, Bratati, Berndt, Sonja I, Justice, Anne E, Pers, Tune H, Day, Felix R, Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L, Yang, Jian, Croteau-Chonka, Damien C, Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jian'an, Mägi, Reedik, Randall, Joshua C, Winkler, Thomas W, Wood, Andrew R, Workalemahu, Tsegaselassie, Faul, Jessica D, Smith, Jennifer A, Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K, Karjalainen, Juha, Schmidt, Ellen M, Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L, Bragg-Gresham, Jennifer L, Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B, Feenstra, Bjarke, Feitosa, Mary F, Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U, Schwarz, Peter E H, Melbye, Mads, and Njølstad, Inger
Abstract: Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
Published: 2015

36. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author: Perry, John R B, Day, Felix, Elks, Cathy E, Sulem, Patrick, Thompson, Deborah J, Ferreira, Teresa, He, Chunyan, Chasman, Daniel I, Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q, Corre, Tanguy, Cousminer, Diana L, Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D, Kjellqvist, Sanela, Lunetta, Kathryn L, McMahon, George, Nolte, Ilja M, Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Tšernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K, Amin, Najaf, Bierut, Laura J, Byrne, Enda M, Hottenga, Jouke-Jan, Koller, Daniel L, Mangino, Massimo, Pers, Tune H, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Andrulis, Irene L, Anton-Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Bojesen, Stig E, Melbye, Mads, Nohr, Ellen A, Sørensen, Thorkild I A, Perry, John R B, Day, Felix, Elks, Cathy E, Sulem, Patrick, Thompson, Deborah J, Ferreira, Teresa, He, Chunyan, Chasman, Daniel I, Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q, Corre, Tanguy, Cousminer, Diana L, Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D, Kjellqvist, Sanela, Lunetta, Kathryn L, McMahon, George, Nolte, Ilja M, Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Tšernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K, Amin, Najaf, Bierut, Laura J, Byrne, Enda M, Hottenga, Jouke-Jan, Koller, Daniel L, Mangino, Massimo, Pers, Tune H, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Andrulis, Irene L, Anton-Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Bojesen, Stig E, Melbye, Mads, Nohr, Ellen A, and Sørensen, Thorkild I A
Abstract: Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
Published: 2014

37. Synthesis, structures, and fluorescent properties of azo anthranilic acid and its Cu(II), Co(II) and Ni(II) complexes

Author: Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, Qi-Hua Zhao, Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, and Qi-Hua Zhao
Published: 2014
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38. Synthesis, structures, and fluorescent properties of azo anthranilic acid and its Cu(II), Co(II), and Ni(II) complexes

Author: Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, Qi-Hua Zhao, Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, and Qi-Hua Zhao
Published: 2014
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39. Synthesis, structures, and fluorescent properties of azo anthranilic acid and its Cu(II), Co(II), and Ni(II) complexes

Author: Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, Qi-Hua Zhao, Yong-Feng Qiao, Lin Du, Jie Zhou, Yan Hu, Lin Li, Bin Li, and Qi-Hua Zhao
Published: 2014
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40. A new Wells-Dawson organic-inorganic hybrid polytungstate containing dimeric silver coordination complexes: (Hpy)2[Ag2(phen)4]2(P2W18O62)

Author: Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, Jin-Xiao Mi, Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, and Jin-Xiao Mi
Published: 2014
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41. A new Wells–Dawson organic–inorganic hybrid polytungstate containing dimeric silver coordination complexes: (Hpy)2[Ag2(phen)4]2(P2W18O62)

Author: Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, Jin-Xiao Mi, Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, and Jin-Xiao Mi
Published: 2014
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42. A new Wells–Dawson organic–inorganic hybrid polytungstate containing dimeric silver coordination complexes: (Hpy)2[Ag2(phen)4]2(P2W18O62)

Author: Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, Jin-Xiao Mi, Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, and Jin-Xiao Mi
Published: 2014
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43. A new Wells–Dawson organic–inorganic hybrid polytungstate containing dimeric silver coordination complexes: (Hpy)2[Ag2(phen)4]2(P2W18O62)

Author: Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, Jin-Xiao Mi, Wu-Hua Chen, Zhi-Biao Hu, Zhu-Sen Zhang, Le-Xing You, Shun-Ji Xie, Qiu-Lan Yuan, Jin-Hua Zhao, Tian-Fu Huang, and Jin-Xiao Mi
Published: 2014
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44. Genome-wide meta-analysis of common variant differences between men and women

Author: Boraska, V., Jeroncic, A., Colonna, V., Southam, L., Nyholt, D.R., William Rayner, N., Perry, J.R., Toniolo, D., Albrecht, E., Ang, W., Bandinelli, S., Barbalic, M., Barroso, I., Beckmann, J.S., Biffar, R., Boomsma, D.I., Campbell, H., Corre, T., Erdmann, J., Esko, T., Fischer, K., Franceschini, N., Frayling, T.M., Girotto, G., Gonzalez, J.R., Harris, T.B., Heath, A.C., Heid, I.M., Hoffmann, W., Hofman, A., Horikoshi, M., Hua Zhao, J., Jackson, A.U., Hottenga, J.J., Jula, A., Kahonen, M., Khaw, K.T., Kiemeney, L.A.L.M., Klopp, N., Kutalik, Z., Lagou, V., Launer, L.J., Lehtimaki, T., Lemire, M., Lokki, M.L., Loley, C., Luan, J., Mangino, M., Mateo Leach, I., Medland, S.E., Mihailov, E., Montgomery, G.W., Navis, G., Newnham, J., Nieminen, M.S., Palotie, A., Panoutsopoulou, K., Peters, A., Pirastu, N., Polasek, O., Rehnstrom, K., Ripatti, S., Ritchie, G.R., Rivadeneira, F., Robino, A., Samani, N.J., Shin, S.Y., Sinisalo, J., Smit, J.H., Soranzo, N., Stolk, L., Swinkels, D.W., Tanaka, T., Teumer, A., Tonjes, A., Traglia, M., Tuomilehto, J., Valsesia, A., van Gilst, W.H., van Meurs, J.B., Smith, A.V., Viikari, J., Vink, J.M., Waeber, G., Warrington, N.M., Widen, E., Willemsen, G., Wright, A.F., Zanke, B.W., Zgaga, L., Wellcome Trust Case Control, C., Boehnke, M., d'Adamo, A.P., de Geus, E., Demerath, E.W., den Heijer, M., Eriksson, J.G., Ferrucci, L., Gieger, C., Gudnason, V., et al., Boraska, V., Jeroncic, A., Colonna, V., Southam, L., Nyholt, D.R., William Rayner, N., Perry, J.R., Toniolo, D., Albrecht, E., Ang, W., Bandinelli, S., Barbalic, M., Barroso, I., Beckmann, J.S., Biffar, R., Boomsma, D.I., Campbell, H., Corre, T., Erdmann, J., Esko, T., Fischer, K., Franceschini, N., Frayling, T.M., Girotto, G., Gonzalez, J.R., Harris, T.B., Heath, A.C., Heid, I.M., Hoffmann, W., Hofman, A., Horikoshi, M., Hua Zhao, J., Jackson, A.U., Hottenga, J.J., Jula, A., Kahonen, M., Khaw, K.T., Kiemeney, L.A.L.M., Klopp, N., Kutalik, Z., Lagou, V., Launer, L.J., Lehtimaki, T., Lemire, M., Lokki, M.L., Loley, C., Luan, J., Mangino, M., Mateo Leach, I., Medland, S.E., Mihailov, E., Montgomery, G.W., Navis, G., Newnham, J., Nieminen, M.S., Palotie, A., Panoutsopoulou, K., Peters, A., Pirastu, N., Polasek, O., Rehnstrom, K., Ripatti, S., Ritchie, G.R., Rivadeneira, F., Robino, A., Samani, N.J., Shin, S.Y., Sinisalo, J., Smit, J.H., Soranzo, N., Stolk, L., Swinkels, D.W., Tanaka, T., Teumer, A., Tonjes, A., Traglia, M., Tuomilehto, J., Valsesia, A., van Gilst, W.H., van Meurs, J.B., Smith, A.V., Viikari, J., Vink, J.M., Waeber, G., Warrington, N.M., Widen, E., Willemsen, G., Wright, A.F., Zanke, B.W., Zgaga, L., Wellcome Trust Case Control, C., Boehnke, M., d'Adamo, A.P., de Geus, E., Demerath, E.W., den Heijer, M., Eriksson, J.G., Ferrucci, L., Gieger, C., and Gudnason, V., et al.
Abstract: Item does not contain fulltext, The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 x 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across approximately 115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
Published: 2012

45. Genome-wide meta-analysis of common variant differences between men and women

Author: Boraska, V., Jeroncic, A., Colonna, V., Southam, L., Nyholt, D.R., William Rayner, N., Perry, J.R., Toniolo, D., Albrecht, E., Ang, W., Bandinelli, S., Barbalic, M., Barroso, I., Beckmann, J.S., Biffar, R., Boomsma, D.I., Campbell, H., Corre, T., Erdmann, J., Esko, T., Fischer, K., Franceschini, N., Frayling, T.M., Girotto, G., Gonzalez, J.R., Harris, T.B., Heath, A.C., Heid, I.M., Hoffmann, W., Hofman, A., Horikoshi, M., Hua Zhao, J., Jackson, A.U., Hottenga, J.J., Jula, A., Kahonen, M., Khaw, K.T., Kiemeney, L.A.L.M., Klopp, N., Kutalik, Z., Lagou, V., Launer, L.J., Lehtimaki, T., Lemire, M., Lokki, M.L., Loley, C., Luan, J., Mangino, M., Mateo Leach, I., Medland, S.E., Mihailov, E., Montgomery, G.W., Navis, G., Newnham, J., Nieminen, M.S., Palotie, A., Panoutsopoulou, K., Peters, A., Pirastu, N., Polasek, O., Rehnstrom, K., Ripatti, S., Ritchie, G.R., Rivadeneira, F., Robino, A., Samani, N.J., Shin, S.Y., Sinisalo, J., Smit, J.H., Soranzo, N., Stolk, L., Swinkels, D.W., Tanaka, T., Teumer, A., Tonjes, A., Traglia, M., Tuomilehto, J., Valsesia, A., van Gilst, W.H., van Meurs, J.B., Smith, A.V., Viikari, J., Vink, J.M., Waeber, G., Warrington, N.M., Widen, E., Willemsen, G., Wright, A.F., Zanke, B.W., Zgaga, L., Wellcome Trust Case Control, C., Boehnke, M., d'Adamo, A.P., de Geus, E., Demerath, E.W., den Heijer, M., Eriksson, J.G., Ferrucci, L., Gieger, C., Gudnason, V., et al., Boraska, V., Jeroncic, A., Colonna, V., Southam, L., Nyholt, D.R., William Rayner, N., Perry, J.R., Toniolo, D., Albrecht, E., Ang, W., Bandinelli, S., Barbalic, M., Barroso, I., Beckmann, J.S., Biffar, R., Boomsma, D.I., Campbell, H., Corre, T., Erdmann, J., Esko, T., Fischer, K., Franceschini, N., Frayling, T.M., Girotto, G., Gonzalez, J.R., Harris, T.B., Heath, A.C., Heid, I.M., Hoffmann, W., Hofman, A., Horikoshi, M., Hua Zhao, J., Jackson, A.U., Hottenga, J.J., Jula, A., Kahonen, M., Khaw, K.T., Kiemeney, L.A.L.M., Klopp, N., Kutalik, Z., Lagou, V., Launer, L.J., Lehtimaki, T., Lemire, M., Lokki, M.L., Loley, C., Luan, J., Mangino, M., Mateo Leach, I., Medland, S.E., Mihailov, E., Montgomery, G.W., Navis, G., Newnham, J., Nieminen, M.S., Palotie, A., Panoutsopoulou, K., Peters, A., Pirastu, N., Polasek, O., Rehnstrom, K., Ripatti, S., Ritchie, G.R., Rivadeneira, F., Robino, A., Samani, N.J., Shin, S.Y., Sinisalo, J., Smit, J.H., Soranzo, N., Stolk, L., Swinkels, D.W., Tanaka, T., Teumer, A., Tonjes, A., Traglia, M., Tuomilehto, J., Valsesia, A., van Gilst, W.H., van Meurs, J.B., Smith, A.V., Viikari, J., Vink, J.M., Waeber, G., Warrington, N.M., Widen, E., Willemsen, G., Wright, A.F., Zanke, B.W., Zgaga, L., Wellcome Trust Case Control, C., Boehnke, M., d'Adamo, A.P., de Geus, E., Demerath, E.W., den Heijer, M., Eriksson, J.G., Ferrucci, L., Gieger, C., and Gudnason, V., et al.
Abstract: Item does not contain fulltext, The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 x 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across approximately 115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
Published: 2012

46. Seventy-five genetic loci influencing the human red blood cell

Author: van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M., Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., O’Reilly, Paul F., Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S., Shin, So-Youn, Tang, Clara S., Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O., Cookson, William O., Das, Debashish, de Bakker, Paul I. W., de Boer, Rudolf A., de Geus, Eco J. C., de Moor, Marleen H., Dimitriou, Maria, Domingues, Francisco S., Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F., Genser, Bernd, Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Harris, Sarah E., Hartikainen, Anna-Liisa, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P., Kemp, John P., Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J. F., Meacham, Stuart, Medland, Sarah E., Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F., Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T., Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M., Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Oliver Schmidt, Carsten, Silljé, Herman H. W., Sladek, Rob, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Völker, Uwe, Whitfield, John B., Willemsen, Gonneke, Winkelmann, Bernhard R., Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, d’Adamo, Adamo Pio, Danesh, John, Deary, Ian J., Dominiczak, Anna F., Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L., Jarvelin, Marjo-Riitta, Tee Khaw, Kay, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G., Metspalu, Andres, Mitchell, Braxton D., Montgomery, Grant W., Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P., Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Snieder, Harold, Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Stumvoll, Michael, Wilson Tang, W. H., Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M., Vollenweider, Peter, Wareham, Nicholas J., Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Beckmann, Jacques S., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Sanna, Serena, Uda, Manuela, Hicks, Andrew A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole, Chambers, John C., van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M., Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., O’Reilly, Paul F., Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S., Shin, So-Youn, Tang, Clara S., Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O., Cookson, William O., Das, Debashish, de Bakker, Paul I. W., de Boer, Rudolf A., de Geus, Eco J. C., de Moor, Marleen H., Dimitriou, Maria, Domingues, Francisco S., Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F., Genser, Bernd, Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Harris, Sarah E., Hartikainen, Anna-Liisa, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P., Kemp, John P., Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J. F., Meacham, Stuart, Medland, Sarah E., Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F., Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T., Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M., Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Oliver Schmidt, Carsten, Silljé, Herman H. W., Sladek, Rob, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Völker, Uwe, Whitfield, John B., Willemsen, Gonneke, Winkelmann, Bernhard R., Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, d’Adamo, Adamo Pio, Danesh, John, Deary, Ian J., Dominiczak, Anna F., Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L., Jarvelin, Marjo-Riitta, Tee Khaw, Kay, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G., Metspalu, Andres, Mitchell, Braxton D., Montgomery, Grant W., Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P., Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Snieder, Harold, Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Stumvoll, Michael, Wilson Tang, W. H., Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M., Vollenweider, Peter, Wareham, Nicholas J., Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Beckmann, Jacques S., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Sanna, Serena, Uda, Manuela, Hicks, Andrew A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole, and Chambers, John C.
Abstract: Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of hemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P , 1028 , which together explain 4–9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have hematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
Published: 2012

47. Seventy-five genetic loci influencing the human red blood cell

Author: van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M., Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., O’Reilly, Paul F., Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S., Shin, So-Youn, Tang, Clara S., Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O., Cookson, William O., Das, Debashish, de Bakker, Paul I. W., de Boer, Rudolf A., de Geus, Eco J. C., de Moor, Marleen H., Dimitriou, Maria, Domingues, Francisco S., Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F., Genser, Bernd, Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Harris, Sarah E., Hartikainen, Anna-Liisa, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P., Kemp, John P., Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J. F., Meacham, Stuart, Medland, Sarah E., Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F., Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T., Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M., Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Oliver Schmidt, Carsten, Silljé, Herman H. W., Sladek, Rob, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Völker, Uwe, Whitfield, John B., Willemsen, Gonneke, Winkelmann, Bernhard R., Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, d’Adamo, Adamo Pio, Danesh, John, Deary, Ian J., Dominiczak, Anna F., Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L., Jarvelin, Marjo-Riitta, Tee Khaw, Kay, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G., Metspalu, Andres, Mitchell, Braxton D., Montgomery, Grant W., Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P., Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Snieder, Harold, Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Stumvoll, Michael, Wilson Tang, W. H., Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M., Vollenweider, Peter, Wareham, Nicholas J., Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Beckmann, Jacques S., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Sanna, Serena, Uda, Manuela, Hicks, Andrew A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole, Chambers, John C., van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M., Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., O’Reilly, Paul F., Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S., Shin, So-Youn, Tang, Clara S., Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O., Cookson, William O., Das, Debashish, de Bakker, Paul I. W., de Boer, Rudolf A., de Geus, Eco J. C., de Moor, Marleen H., Dimitriou, Maria, Domingues, Francisco S., Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F., Genser, Bernd, Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Harris, Sarah E., Hartikainen, Anna-Liisa, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P., Kemp, John P., Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J. F., Meacham, Stuart, Medland, Sarah E., Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F., Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T., Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M., Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Oliver Schmidt, Carsten, Silljé, Herman H. W., Sladek, Rob, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Völker, Uwe, Whitfield, John B., Willemsen, Gonneke, Winkelmann, Bernhard R., Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, d’Adamo, Adamo Pio, Danesh, John, Deary, Ian J., Dominiczak, Anna F., Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L., Jarvelin, Marjo-Riitta, Tee Khaw, Kay, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G., Metspalu, Andres, Mitchell, Braxton D., Montgomery, Grant W., Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P., Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Snieder, Harold, Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Stumvoll, Michael, Wilson Tang, W. H., Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M., Vollenweider, Peter, Wareham, Nicholas J., Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Beckmann, Jacques S., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Sanna, Serena, Uda, Manuela, Hicks, Andrew A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole, and Chambers, John C.
Abstract: Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of hemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P , 1028 , which together explain 4–9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have hematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
Published: 2012

48. New gene functions in megakaryopoiesis and platelet formation

Author: Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., Soranzo, Nicole, Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., and Soranzo, Nicole
Abstract: Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.
Published: 2011

49. New gene functions in megakaryopoiesis and platelet formation

Author: Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., Soranzo, Nicole, Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., and Soranzo, Nicole
Abstract: Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.
Published: 2011

50. Study of Degradation Products and Degradation Pathways of ECD and Its Drug Product, ECD Kit

Author: Kung-Tien Liu, Yu-Yung Lin, Yi-Chih Hsia, Jian-Hua Zhao, Chang-Yung Su, Shang-Yu Shen, Lee-Chung Men, Lie-Hang Shen, Kung-Tien Liu, Yu-Yung Lin, Yi-Chih Hsia, Jian-Hua Zhao, Chang-Yung Su, Shang-Yu Shen, Lee-Chung Men, and Lie-Hang Shen
Published: 2011
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