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1. Maternal epigenetic clocks measured during pregnancy do not predict gestational age at delivery or offspring birth outcomes: a replication study in metropolitan Cebu, Philippines

Author

Ryan, Calen P., primary, Rege, Raviraj J., additional, Lee, Nanette R., additional, Carba, Delia B., additional, Kobor, Michael S., additional, MacIsaac, Julie L., additional, Lin, David S., additional, Atashzay, Parmida, additional, and Kuzawa, Christopher W., additional

Published
2022
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2. Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood

Author

Zheng, Yan, primary, Huang, Tao, additional, Wang, Tiange, additional, Mei, Zhendong, additional, Sun, Zhonghan, additional, Zhang, Tao, additional, Ellervik, Christina, additional, Chai, Jin-Fang, additional, Sim, Xueling, additional, van Dam, Rob M., additional, Tai, E-Shyong, additional, Koh, Woon-Puay, additional, Dorajoo, Rajkumar, additional, Saw, Seang-Mei, additional, Sabanayagam, Charumathi, additional, Wong, Tien Yin, additional, Gupta, Preeti, additional, Rossing, Peter, additional, Ahluwalia, Tarunveer S., additional, Vinding, Rebecca K., additional, Bisgaard, Hans, additional, Bønnelykke, Klaus, additional, Wang, Yujie, additional, Graff, Mariaelisa, additional, Voortman, Trudy, additional, van Rooij, Frank J. A., additional, Hofman, Albert, additional, van Heemst, Diana, additional, Noordam, Raymond, additional, Estampador, Angela C., additional, Varga, Tibor V., additional, Enzenbach, Cornelia, additional, Scholz, Markus, additional, Thiery, Joachim, additional, Burkhardt, Ralph, additional, Orho-Melander, Marju, additional, Schulz, Christina-Alexandra, additional, Ericson, Ulrika, additional, Sonestedt, Emily, additional, Kubo, Michiaki, additional, Akiyama, Masato, additional, Zhou, Ang, additional, Kilpeläinen, Tuomas O., additional, Hansen, Torben, additional, Kleber, Marcus E., additional, Delgado, Graciela, additional, McCarthy, Mark, additional, Lemaitre, Rozenn N., additional, Felix, Janine F., additional, Jaddoe, Vincent W. V., additional, Wu, Ying, additional, Mohlke, Karen L., additional, Lehtimäki, Terho, additional, Wang, Carol A., additional, Pennell, Craig E., additional, Schunkert, Heribert, additional, Kessler, Thorsten, additional, Zeng, Lingyao, additional, Willenborg, Christina, additional, Peters, Annette, additional, Lieb, Wolfgang, additional, Grote, Veit, additional, Rzehak, Peter, additional, Koletzko, Berthold, additional, Erdmann, Jeanette, additional, Munz, Matthias, additional, Wu, Tangchun, additional, He, Meian, additional, Yu, Caizheng, additional, Lecoeur, Cécile, additional, Froguel, Philippe, additional, Corella, Dolores, additional, Moreno, Luis A., additional, Lai, Chao-Qiang, additional, Pitkänen, Niina, additional, Boreham, Colin A., additional, Ridker, Paul M., additional, Rosendaal, Frits R., additional, de Mutsert, Renée, additional, Power, Chris, additional, Paternoster, Lavinia, additional, Sørensen, Thorkild I. A., additional, Tjønneland, Anne, additional, Overvad, Kim, additional, Djousse, Luc, additional, Rivadeneira, Fernando, additional, Lee, Nanette R., additional, Raitakari, Olli T., additional, Kähönen, Mika, additional, Viikari, Jorma, additional, Langhendries, Jean-Paul, additional, Escribano, Joaquin, additional, Verduci, Elvira, additional, Dedoussis, George, additional, König, Inke, additional, Balkau, Beverley, additional, Coltell, Oscar, additional, Dallongeville, Jean, additional, Meirhaeghe, Aline, additional, Amouyel, Philippe, additional, Gottrand, Frédéric, additional, Pahkala, Katja, additional, Niinikoski, Harri, additional, Hyppönen, Elina, additional, März, Winfried, additional, Mackey, David A., additional, Gruszfeld, Dariusz, additional, Tucker, Katherine L., additional, Fumeron, Frédéric, additional, Estruch, Ramon, additional, Ordovas, Jose M., additional, Arnett, Donna K., additional, Mook-Kanamori, Dennis O., additional, Mozaffarian, Dariush, additional, Psaty, Bruce M., additional, North, Kari E., additional, Chasman, Daniel I., additional, and Qi, Lu, additional

Published
2020
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3. Identification of type 2 diabetes loci in 433,540 East Asian individuals

Author

Spracklen, Cassandra N., primary, Horikoshi, Momoko, additional, Kim, Young Jin, additional, Lin, Kuang, additional, Bragg, Fiona, additional, Moon, Sanghoon, additional, Suzuki, Ken, additional, Tam, Claudia H. T., additional, Tabara, Yasuharu, additional, Kwak, Soo-Heon, additional, Takeuchi, Fumihiko, additional, Long, Jirong, additional, Lim, Victor J. Y., additional, Chai, Jin-Fang, additional, Chen, Chien-Hsiun, additional, Nakatochi, Masahiro, additional, Yao, Jie, additional, Choi, Hyeok Sun, additional, Iyengar, Apoorva K., additional, Perrin, Hannah J., additional, Brotman, Sarah M., additional, van de Bunt, Martijn, additional, Gloyn, Anna L., additional, Below, Jennifer E., additional, Boehnke, Michael, additional, Bowden, Donald W., additional, Chambers, John C., additional, Mahajan, Anubha, additional, McCarthy, Mark I., additional, Ng, Maggie C. Y., additional, Petty, Lauren E., additional, Zhang, Weihua, additional, Morris, Andrew P., additional, Adair, Linda S., additional, Akiyama, Masato, additional, Bian, Zheng, additional, Chan, Juliana C. N., additional, Chang, Li-Ching, additional, Chee, Miao-Li, additional, Chen, Yii-Der Ida, additional, Chen, Yuan-Tsong, additional, Chen, Zhengming, additional, Chuang, Lee-Ming, additional, Du, Shufa, additional, Gordon-Larsen, Penny, additional, Gross, Myron, additional, Guo, Xiuqing, additional, Guo, Yu, additional, Han, Sohee, additional, Howard, Annie-Green, additional, Huang, Wei, additional, Hung, Yi-Jen, additional, Hwang, Mi Yeong, additional, Hwu, Chii-Min, additional, Ichihara, Sahoko, additional, Isono, Masato, additional, Jang, Hye-Mi, additional, Jiang, Guozhi, additional, Jonas, Jost B., additional, Kamatani, Yoichiro, additional, Katsuya, Tomohiro, additional, Kawaguchi, Takahisa, additional, Khor, Chiea-Chuen, additional, Kohara, Katsuhiko, additional, Lee, Myung-Shik, additional, Lee, Nanette R., additional, Li, Liming, additional, Liu, Jianjun, additional, Luk, Andrea O., additional, Lv, Jun, additional, Okada, Yukinori, additional, Pereira, Mark A., additional, Sabanayagam, Charumathi, additional, Shi, Jinxiu, additional, Shin, Dong Mun, additional, So, Wing Yee, additional, Takahashi, Atsushi, additional, Tomlinson, Brian, additional, Tsai, Fuu-Jen, additional, van Dam, Rob M., additional, Xiang, Yong-Bing, additional, Yamamoto, Ken, additional, Yamauchi, Toshimasa, additional, Yoon, Kyungheon, additional, Yu, Canqing, additional, Yuan, Jian-Min, additional, Zhang, Liang, additional, Zheng, Wei, additional, Igase, Michiya, additional, Cho, Yoon Shin, additional, Rotter, Jerome I., additional, Wang, Ya-Xing, additional, Sheu, Wayne H. H., additional, Yokota, Mitsuhiro, additional, Wu, Jer-Yuarn, additional, Cheng, Ching-Yu, additional, Wong, Tien-Yin, additional, Shu, Xiao-Ou, additional, Kato, Norihiro, additional, Park, Kyong-Soo, additional, Tai, E-Shyong, additional, Matsuda, Fumihiko, additional, Koh, Woon-Puay, additional, Ma, Ronald C. W., additional, Maeda, Shiro, additional, Millwood, Iona Y., additional, Lee, Juyoung, additional, Kadowaki, Takashi, additional, Walters, Robin G., additional, Kim, Bong-Jo, additional, Mohlke, Karen L., additional, and Sim, Xueling, additional

Published
2020
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6. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author

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

Published
2017
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7. Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference

Author

Wen, Wanqing, primary, Kato, Norihiro, additional, Hwang, Joo-Yeon, additional, Guo, Xingyi, additional, Tabara, Yasuharu, additional, Li, Huaixing, additional, Dorajoo, Rajkumar, additional, Yang, Xiaobo, additional, Tsai, Fuu-Jen, additional, Li, Shengxu, additional, Wu, Ying, additional, Wu, Tangchun, additional, Kim, Soriul, additional, Guo, Xiuqing, additional, Liang, Jun, additional, Shungin, Dmitry, additional, Adair, Linda S., additional, Akiyama, Koichi, additional, Allison, Matthew, additional, Cai, Qiuyin, additional, Chang, Li-Ching, additional, Chen, Chien-Hsiun, additional, Chen, Yuan-Tsong, additional, Cho, Yoon Shin, additional, Choi, Bo Youl, additional, Gao, Yutang, additional, Go, Min Jin, additional, Gu, Dongfeng, additional, Han, Bok-Ghee, additional, He, Meian, additional, Hixson, James E., additional, Hu, Yanling, additional, Huang, Tao, additional, Isono, Masato, additional, Jung, Keum Ji, additional, Kang, Daehee, additional, Kim, Young Jin, additional, Kita, Yoshikuni, additional, Lee, Juyoung, additional, Lee, Nanette R., additional, Lee, Jeannette, additional, Wang, Yiqin, additional, Liu, Jian-Jun, additional, Long, Jirong, additional, Moon, Sanghoon, additional, Nakamura, Yasuyuki, additional, Nakatochi, Masahiro, additional, Ohnaka, Keizo, additional, Rao, Dabeeru, additional, Shi, Jiajun, additional, Sull, Jae Woong, additional, Tan, Aihua, additional, Ueshima, Hirotsugu, additional, Wu, Chen, additional, Xiang, Yong-Bing, additional, Yamamoto, Ken, additional, Yao, Jie, additional, Ye, Xingwang, additional, Yokota, Mitsuhiro, additional, Zhang, Xiaomin, additional, Zheng, Yan, additional, Qi, Lu, additional, Rotter, Jerome I., additional, Jee, Sun Ha, additional, Lin, Dongxin, additional, Mohlke, Karen L., additional, He, Jiang, additional, Mo, Zengnan, additional, Wu, Jer-Yuarn, additional, Tai, E. Shyong, additional, Lin, Xu, additional, Miki, Tetsuro, additional, Kim, Bong-Jo, additional, Takeuchi, Fumihiko, additional, Zheng, Wei, additional, and Shu, Xiao-Ou, additional

Published
2016
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10. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Author

Justice, Anne E, Karaderi, Tugce, Highland, Heather M, Young, Kristin L, Graff, Mariaelisa, Lu, Yingchang, Turcot, Valérie, Auer, Paul L, Fine, Rebecca S, Guo, Xiuqing, Schurmann, Claudia, Lempradl, Adelheid, Marouli, Eirini, Mahajan, Anubha, Winkler, Thomas W, Locke, Adam E, Medina-Gomez, Carolina, Esko, Tõnu, Vedantam, Sailaja, Giri, Ayush, Lo, Ken Sin, Alfred, Tamuno, Mudgal, Poorva, Ng, Maggie CY, Heard-Costa, Nancy L, Feitosa, Mary F, Manning, Alisa K, Willems, Sara M, Sivapalaratnam, Suthesh, Abecasis, Goncalo, Alam, Dewan S, Allison, Matthew, Amouyel, Philippe, Arzumanyan, Zorayr, Balkau, Beverley, Bastarache, Lisa, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Broer, Linda, Burt, Amber A, Butterworth, Adam S, Caulfield, Mark J, Cesana, Giancarlo, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Collins, Francis S, Cook, James P, Cox, Amanda J, Crosslin, David S, Danesh, John, De Bakker, Paul IW, Denus, Simon De, Mutsert, Renée De, Dedoussis, George, Demerath, Ellen W, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Dörr, Marcus, Drenos, Fotios, Dubé, Marie-Pierre, Dunning, Alison M, Easton, Douglas F, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C, Fornage, Myriam, Fox, Caroline S, Franks, Paul W, Friedrich, Nele, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Girotto, Giorgia, Gorski, Mathias, Grallert, Harald, Grarup, Niels, Grove, Megan L, Gustafsson, Stefan, Haessler, Jeff, Hansen, Torben, Hattersley, Andrew T, Hayward, Caroline, Heid, Iris M, Holmen, Oddgeir L, Hovingh, G Kees, Howson, Joanna MM, Hu, Yao, Hung, Yi-Jen, Hveem, Kristian, Ikram, M Arfan, Ingelsson, Erik, Jackson, Anne U, Jarvik, Gail P, Jia, Yucheng, Jørgensen, Torben, Jousilahti, Pekka, Justesen, Johanne M, Kahali, Bratati, Karaleftheri, Maria, Kardia, Sharon LR, Karpe, Fredrik, Kee, Frank, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S, Kovacs, Peter, Krämer, Bernhard K, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lamparter, David, Lange, Leslie A, Langenberg, Claudia, Larson, Eric B, Lee, Nanette R, Lee, Wen-Jane, Lehtimäki, Terho, Lewis, Cora E, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J, Luan, Jian'an, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mägi, Reedik, Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Masca, Nicholas GD, McCarthy, Mark I, Meidtner, Karina, Mihailov, Evelin, Moilanen, Leena, Moitry, Marie, Mook-Kanamori, Dennis O, Morgan, Anna, Morris, Andrew P, Müller-Nurasyid, Martina, Munroe, Patricia B, Narisu, Narisu, Nelson, Christopher P, Neville, Matt, Ntalla, Ioanna, O'Connell, Jeffrey R, Owen, Katharine R, Pedersen, Oluf, Peloso, Gina M, Pennell, Craig E, Perola, Markus, Perry, James A, Perry, John RB, Pers, Tune H, Ewing, Ailith, Polasek, Ozren, Raitakari, Olli T, Rasheed, Asif, Raulerson, Chelsea K, Rauramaa, Rainer, Reilly, Dermot F, Reiner, Alex P, Ridker, Paul M, Rivas, Manuel A, Robertson, Neil R, Robino, Antonietta, Rudan, Igor, Ruth, Katherine S, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J, Schreiner, Pamela J, Schulze, Matthias B, Scott, Robert A, Segura-Lepe, Marcelo, Sim, Xueling, Slater, Andrew J, Small, Kerrin S, Smith, Blair H, Smith, Jennifer A, Southam, Lorraine, Spector, Timothy D, Speliotes, Elizabeth K, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swart, Karin MA, Tardif, Jean-Claude, Taylor, Kent D, Teumer, Alexander, Thompson, Deborah J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H, Tönjes, Anke, Torres, Mina, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Uitterlinden, André G, Uusitupa, Matti, Van Duijn, Cornelia M, Vanhala, Mauno, Varma, Rohit, Vermeulen, Sita H, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F, Vuckovic, Dragana, Wagenknecht, Lynne E, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A, Wang, Shuai, Wareham, Nicholas J, Warren, Helen R, Waterworth, Dawn M, Wessel, Jennifer, White, Harvey D, Willer, Cristen J, Wilson, James G, Wood, Andrew R, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yerges-Armstrong, Laura M, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Zillikens, M Carola, Rivadeneira, Fernando, Borecki, Ingrid B, Pospisilik, J Andrew, Deloukas, Panos, Frayling, Timothy M, Lettre, Guillaume, Mohlke, Karen L, Rotter, Jerome I, Kutalik, Zoltán, Hirschhorn, Joel N, Cupples, L Adrienne, Loos, Ruth JF, North, Kari E, Lindgren, Cecilia M, CHD Exome+ Consortium, Cohorts For Heart And Aging Research In Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, InterAct, ReproGen Consortium, T2D-Genes Consortium, and MAGIC Investigators

Subjects
2. Zero hunger, Male, Waist-Hip Ratio, Genetic Variation, Proteins, Lipids, Body Mass Index, Gene Frequency, Risk Factors, Case-Control Studies, Animals, Body Fat Distribution, Homeostasis, Humans, Drosophila, Exome, Female, Genetic Predisposition to Disease, Genome-Wide Association Study
Abstract

Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF

11. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Author

International Consortium For Blood Pressure Genome-Wide Association Studies, Ehret, Georg B, Munroe, Patricia B, Rice, Kenneth M, Bochud, Murielle, Johnson, Andrew D, Chasman, Daniel I, Smith, Albert V, Tobin, Martin D, Verwoert, Germaine C, Hwang, Shih-Jen, Pihur, Vasyl, Vollenweider, Peter, O'Reilly, Paul F, Amin, Najaf, Bragg-Gresham, Jennifer L, Teumer, Alexander, Glazer, Nicole L, Launer, Lenore, Zhao, Jing Hua, Aulchenko, Yurii, Heath, Simon, Sõber, Siim, Parsa, Afshin, Luan, Jian'an, Arora, Pankaj, Dehghan, Abbas, Zhang, Feng, Lucas, Gavin, Hicks, Andrew A, Jackson, Anne U, Peden, John F, Tanaka, Toshiko, Wild, Sarah H, Rudan, Igor, Igl, Wilmar, Milaneschi, Yuri, Parker, Alex N, Fava, Cristiano, Chambers, John C, Fox, Ervin R, Kumari, Meena, Go, Min Jin, Van Der Harst, Pim, Kao, Wen Hong Linda, Sjögren, Marketa, Vinay, DG, Alexander, Myriam, Tabara, Yasuharu, Shaw-Hawkins, Sue, Whincup, Peter H, Liu, Yongmei, Shi, Gang, Kuusisto, Johanna, Tayo, Bamidele, Seielstad, Mark, Sim, Xueling, Nguyen, Khanh-Dung Hoang, Lehtimäki, Terho, Matullo, Giuseppe, Wu, Ying, Gaunt, Tom R, Onland-Moret, N Charlotte, Cooper, Matthew N, Platou, Carl GP, Org, Elin, Hardy, Rebecca, Dahgam, Santosh, Palmen, Jutta, Vitart, Veronique, Braund, Peter S, Kuznetsova, Tatiana, Uiterwaal, Cuno SPM, Adeyemo, Adebowale, Palmas, Walter, Campbell, Harry, Ludwig, Barbara, Tomaszewski, Maciej, Tzoulaki, Ioanna, Palmer, Nicholette D, CARDIoGRAM Consortium, CKDGen Consortium, KidneyGen Consortium, EchoGen Consortium, CHARGE-HF Consortium, Aspelund, Thor, Garcia, Melissa, Chang, Yen-Pei C, O'Connell, Jeffrey R, Steinle, Nanette I, Grobbee, Diederick E, Arking, Dan E, Kardia, Sharon L, Morrison, Alanna C, Hernandez, Dena, Najjar, Samer, McArdle, Wendy L, Hadley, David, Brown, Morris J, Connell, John M, Hingorani, Aroon D, Day, Ian NM, Lawlor, Debbie A, Beilby, John P, Lawrence, Robert W, Clarke, Robert, Hopewell, Jemma C, Ongen, Halit, Dreisbach, Albert W, Li, Yali, Young, J Hunter, Bis, Joshua C, Kähönen, Mika, Viikari, Jorma, Adair, Linda S, Lee, Nanette R, Chen, Ming-Huei, Olden, Matthias, Pattaro, Cristian, Bolton, Judith A Hoffman, Köttgen, Anna, Bergmann, Sven, Mooser, Vincent, Chaturvedi, Nish, Frayling, Timothy M, Islam, Muhammad, Jafar, Tazeen H, Erdmann, Jeanette, Kulkarni, Smita R, Bornstein, Stefan R, Grässler, Jürgen, Groop, Leif, Voight, Benjamin F, Kettunen, Johannes, Howard, Philip, Taylor, Andrew, Guarrera, Simonetta, Ricceri, Fulvio, Emilsson, Valur, Plump, Andrew, Barroso, Inês, Khaw, Kay-Tee, Weder, Alan B, Hunt, Steven C, Sun, Yan V, Bergman, Richard N, Collins, Francis S, Bonnycastle, Lori L, Scott, Laura J, Stringham, Heather M, Peltonen, Leena, Perola, Markus, Vartiainen, Erkki, Brand, Stefan-Martin, Staessen, Jan A, Wang, Thomas J, Burton, Paul R, Soler Artigas, Maria, Dong, Yanbin, Snieder, Harold, Wang, Xiaoling, Zhu, Haidong, Lohman, Kurt K, Rudock, Megan E, Heckbert, Susan R, Smith, Nicholas L, Wiggins, Kerri L, Doumatey, Ayo, Shriner, Daniel, Veldre, Gudrun, Viigimaa, Margus, Kinra, Sanjay, Prabhakaran, Dorairaj, Tripathy, Vikal, Langefeld, Carl D, Rosengren, Annika, Thelle, Dag S, Corsi, Anna Maria, Singleton, Andrew, Forrester, Terrence, Hilton, Gina, McKenzie, Colin A, Salako, Tunde, Iwai, Naoharu, Kita, Yoshikuni, Ogihara, Toshio, Ohkubo, Takayoshi, Okamura, Tomonori, Ueshima, Hirotsugu, Umemura, Satoshi, Eyheramendy, Susana, Meitinger, Thomas, Wichmann, H-Erich, Cho, Yoon Shin, Kim, Hyung-Lae, Lee, Jong-Young, Scott, James, Sehmi, Joban S, Zhang, Weihua, Hedblad, Bo, Nilsson, Peter, Smith, George Davey, Wong, Andrew, Narisu, Narisu, Stančáková, Alena, Raffel, Leslie J, Yao, Jie, Kathiresan, Sekar, O'Donnell, Christopher J, Schwartz, Stephen M, Ikram, M Arfan, Longstreth, WT, Mosley, Thomas H, Seshadri, Sudha, Shrine, Nick RG, Wain, Louise V, Morken, Mario A, Swift, Amy J, Laitinen, Jaana, Prokopenko, Inga, Zitting, Paavo, Cooper, Jackie A, Humphries, Steve E, Danesh, John, Rasheed, Asif, Goel, Anuj, Hamsten, Anders, Watkins, Hugh, Bakker, Stephan JL, Van Gilst, Wiek H, Janipalli, Charles S, Mani, K Radha, Yajnik, Chittaranjan S, Hofman, Albert, Mattace-Raso, Francesco US, Oostra, Ben A, Demirkan, Ayse, Isaacs, Aaron, Rivadeneira, Fernando, Lakatta, Edward G, Orru, Marco, Scuteri, Angelo, Ala-Korpela, Mika, Kangas, Antti J, Lyytikäinen, Leo-Pekka, Soininen, Pasi, Tukiainen, Taru, Würtz, Peter, Ong, Rick Twee-Hee, Dörr, Marcus, Kroemer, Heyo K, Völker, Uwe, Völzke, Henry, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Zelenika, Diana, Deloukas, Panos, Mangino, Massimo, Spector, Tim D, Zhai, Guangju, Meschia, James F, Nalls, Michael A, Sharma, Pankaj, Terzic, Janos, Kumar, MV Kranthi, Denniff, Matthew, Zukowska-Szczechowska, Ewa, Wagenknecht, Lynne E, Fowkes, F Gerald R, Charchar, Fadi J, Schwarz, Peter EH, Hayward, Caroline, Guo, Xiuqing, Rotimi, Charles, Bots, Michiel L, Brand, Eva, Samani, Nilesh J, Polasek, Ozren, Talmud, Philippa J, Nyberg, Fredrik, Kuh, Diana, Laan, Maris, Hveem, Kristian, Palmer, Lyle J, Van Der Schouw, Yvonne T, Casas, Juan P, Mohlke, Karen L, Vineis, Paolo, Raitakari, Olli, Ganesh, Santhi K, Wong, Tien Y, Tai, E Shyong, Cooper, Richard S, Laakso, Markku, Rao, Dabeeru C, Harris, Tamara B, Morris, Richard W, Dominiczak, Anna F, Kivimaki, Mika, Marmot, Michael G, Miki, Tetsuro, Saleheen, Danish, Chandak, Giriraj R, Coresh, Josef, Navis, Gerjan, Salomaa, Veikko, Han, Bok-Ghee, Zhu, Xiaofeng, Kooner, Jaspal S, Melander, Olle, Ridker, Paul M, Bandinelli, Stefania, Gyllensten, Ulf B, Wright, Alan F, Wilson, James F, Ferrucci, Luigi, Farrall, Martin, Tuomilehto, Jaakko, Pramstaller, Peter P, Elosua, Roberto, Soranzo, Nicole, Sijbrands, Eric JG, Altshuler, David, Loos, Ruth JF, Shuldiner, Alan R, Gieger, Christian, Meneton, Pierre, Uitterlinden, Andre G, Wareham, Nicholas J, Gudnason, Vilmundur, Rotter, Jerome I, Rettig, Rainer, Uda, Manuela, Strachan, David P, Witteman, Jacqueline CM, Hartikainen, Anna-Liisa, Beckmann, Jacques S, Boerwinkle, Eric, Vasan, Ramachandran S, Boehnke, Michael, Larson, Martin G, Järvelin, Marjo-Riitta, Psaty, Bruce M, Abecasis, Gonçalo R, Chakravarti, Aravinda, Elliott, Paul, Van Duijn, Cornelia M, Newton-Cheh, Christopher, Levy, Daniel, Caulfield, Mark J, and Johnson, Toby

Subjects
Asia, Blood Pressure, Coronary Artery Disease, Polymorphism, Single Nucleotide, 3. Good health, Europe, Stroke, Cardiovascular Diseases, Africa, Hypertension, Humans, Genetic Predisposition to Disease, Kidney Diseases, Genome-Wide Association Study
Abstract

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.

12. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M, Schurmann, Claudia, Justice, Anne E, Fine, Rebecca S, Bradfield, Jonathan P, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L, Alfred, Tamuno, Feitosa, Mary F, Masca, Nicholas GD, Manning, Alisa K, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Vedantam, Sailaja, Willems, Sara M, Winkler, Thomas W, Abecasis, Gonçalo, Aben, Katja K, Alam, Dewan S, Alharthi, Sameer E, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Bang, Lia E, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Brumat, Marco, Burt, Amber A, Butterworth, Adam S, Campbell, Peter T, Cappellani, Stefania, Carey, David J, Catamo, Eulalia, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der I, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J, Crosslin, David S, Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul IW, Groot, Mark CH, Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, Heijer, Martin, Hollander, Anneke I, Ruijter, Hester M, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M, Easton, Douglas F, Edwards, Todd L, Ellinghaus, David, Ellinor, Patrick T, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I Sadaf, Faul, Jessica D, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C, Ford, Ian, Fornage, Myriam, Franco, Oscar H, Franke, Andre, Franks, Paul W, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan FA, Grarup, Niels, Griffiths, Helen L, Grove, Megan L, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B, Hattersley, Andrew T, Have, Christian T, Hayward, Caroline, He, Liang, Heard-Costa, Nancy L, Heath, Andrew C, Heid, Iris M, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W, Holmen, Oddgeir L, Hovingh, G Kees, Howson, Joanna MM, Hu, Yao, Huang, Paul L, Huffman, Jennifer E, Ikram, M Arfan, Ingelsson, Erik, Jackson, Anne U, Jansson, Jan-Håkan, Jarvik, Gail P, Jensen, Gorm B, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E, Jørgensen, Torben, Jukema, J Wouter, Kahali, Bratati, Kahn, René S, Kähönen, Mika, Kamstrup, Pia R, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon LR, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lamparter, David, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Larson, Eric B, Lee, Nanette R, Lehtimäki, Terho, Lewis, Cora E, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J, Liu, Yongmei, Lo, Ken S, Lophatananon, Artitaya, Lotery, Andrew J, Loukola, Anu, Luan, Jian'an, Lubitz, Steven A, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L, McCarthy, Mark I, McKean-Cowdin, Roberta, Medland, Sarah E, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L, Moilanen, Leena, Moitry, Marie, Montgomery, Grant W, Mook-Kanamori, Dennis O, Moore, Carmel, Mori, Trevor A, Morris, Andrew D, Morris, Andrew P, Müller-Nurasyid, Martina, Munroe, Patricia B, Nalls, Mike A, Narisu, Narisu, Nelson, Christopher P, Neville, Matt, Nielsen, Sune F, Nikus, Kjell, Njølstad, Pål R, Nordestgaard, Børge G, Nyholt, Dale R, O'Connel, Jeffrey R, O'Donoghue, Michelle L, Olde Loohuis, Loes M, Ophoff, Roel A, Owen, Katharine R, Packard, Chris J, Padmanabhan, Sandosh, Palmer, Colin NA, Palmer, Nicholette D, Pasterkamp, Gerard, Patel, Aniruddh P, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L, Peloso, Gina M, Pennell, Craig E, Perola, Markus, Perry, James A, Perry, John RB, Pers, Tune H, Person, Thomas N, Peters, Annette, Petersen, Eva RB, Peyser, Patricia A, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J, Puolijoki, Hannu, Raitakari, Olli T, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F, Renström, Frida, Rheinberger, Myriam, Ridker, Paul M, Rioux, John D, Rivas, Manuel A, Roberts, David J, Robertson, Neil R, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E, Schreiner, Pamela J, Schulze, Matthias B, Scott, Robert A, Segura-Lepe, Marcelo P, Shah, Svati H, Sheu, Wayne H-H, Sim, Xueling, Slater, Andrew J, Small, Kerrin S, Smith, Albert V, Southam, Lorraine, Spector, Timothy D, Speliotes, Elizabeth K, Starr, John M, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J, Tada, Hayato, Tansey, Katherine E, Tardif, Jean-Claude, Taylor, Kent D, Teumer, Alexander, Thompson, Deborah J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P, Uher, Rudolf, Uitterlinden, André G, Uusitupa, Matti, Laan, Sander W, Duijn, Cornelia M, Leeuwen, Nienke, Van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V, Varma, Rohit, Velez Edwards, Digna R, Vermeulen, Sita H, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A, Wang, Shuai, Wang, Yiqin, Ware, Erin B, Wareham, Nicholas J, Warren, Helen R, Waterworth, Dawn M, Wessel, Jennifer, White, Harvey D, Willer, Cristen J, Wilson, James G, Witte, Daniel R, Wood, Andrew R, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I, Pospisilik, John A, Rivadeneira, Fernando, Borecki, Ingrid B, Deloukas, Panos, Frayling, Timothy M, Lettre, Guillaume, North, Kari E, Lindgren, Cecilia M, Hirschhorn, Joel N, and Loos, Ruth JF

Subjects
2. Zero hunger, Adult, Male, Genetic Variation, Proteins, Syndrome, Body Mass Index, Gene Frequency, Animals, Humans, Drosophila, Female, Obesity, Energy Intake, Energy Metabolism
Abstract

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

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