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1. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases

Author

Wielscher, Matthias, Mandaviya, Pooja R., Kuehnel, Brigitte, Joehanes, Roby, Mustafa, Rima, Robinson, Oliver, Zhang, Yan, Bodinier, Barbara, Walton, Esther, Mishra, Pashupati P., Schlosser, Pascal, Wilson, Rory, Tsai, Pei-Chien, Palaniswamy, Saranya, Marioni, Riccardo E., Fiorito, Giovanni, Cugliari, Giovanni, Karhunen, Ville, Ghanbari, Mohsen, Psaty, Bruce M., Loh, Marie, Bis, Joshua C., Lehne, Benjamin, Sotoodehnia, Nona, Deary, Ian J., Chadeau-Hyam, Marc, Brody, Jennifer A., Cardona, Alexia, Selvin, Elizabeth, Smith, Alicia K., Miller, Andrew H., Torres, Mylin A., Marouli, Eirini, Gào, Xin, van Meurs, Joyce B. J., Graf-Schindler, Johanna, Rathmann, Wolfgang, Koenig, Wolfgang, Peters, Annette, Weninger, Wolfgang, Farlik, Matthias, Zhang, Tao, Chen, Wei, Xia, Yujing, Teumer, Alexander, Nauck, Matthias, Grabe, Hans J., Doerr, Macus, Lehtimäki, Terho, Guan, Weihua, Milani, Lili, Tanaka, Toshiko, Fisher, Krista, Waite, Lindsay L., Kasela, Silva, Vineis, Paolo, Verweij, Niek, van der Harst, Pim, Iacoviello, Licia, Sacerdote, Carlotta, Panico, Salvatore, Krogh, Vittorio, Tumino, Rosario, Tzala, Evangelia, Matullo, Giuseppe, Hurme, Mikko A., Raitakari, Olli T., Colicino, Elena, Baccarelli, Andrea A., Kähönen, Mika, Herzig, Karl-Heinz, Li, Shengxu, Conneely, Karen N., Kooner, Jaspal S., Köttgen, Anna, Heijmans, Bastiaan T., Deloukas, Panos, Relton, Caroline, Ong, Ken K., Bell, Jordana T., Boerwinkle, Eric, Elliott, Paul, Brenner, Hermann, Beekman, Marian, Levy, Daniel, Waldenberger, Melanie, Chambers, John C., Dehghan, Abbas, and Järvelin, Marjo-Riitta

Published
2022
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2. GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

Author

Lu, Ake T, Xue, Luting, Salfati, Elias L, Chen, Brian H, Ferrucci, Luigi, Levy, Daniel, Joehanes, Roby, Murabito, Joanne M, Kiel, Douglas P, Tsai, Pei-Chien, Yet, Idil, Bell, Jordana T, Mangino, Massimo, Tanaka, Toshiko, McRae, Allan F, Marioni, Riccardo E, Visscher, Peter M, Wray, Naomi R, Deary, Ian J, Levine, Morgan E, Quach, Austin, Assimes, Themistocles, Tsao, Philip S, Absher, Devin, Stewart, James D, Li, Yun, Reiner, Alex P, Hou, Lifang, Baccarelli, Andrea A, Whitsel, Eric A, Aviv, Abraham, Cardona, Alexia, Day, Felix R, Wareham, Nicholas J, Perry, John RB, Ong, Ken K, Raj, Kenneth, Lunetta, Kathryn L, and Horvath, Steve

Subjects
Leukocytes, Cells, Cultured, Telomere, Fibroblasts, Humans, Telomerase, DNA Methylation, Epigenesis, Genetic, CpG Islands, Aging, Menopause, Menarche, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Mendelian Randomization Analysis, Cells, Cultured, Epigenesis, Genetic, and over
Abstract

DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA. Variants associated with longer leukocyte telomere length (LTL) in the telomerase reverse transcriptase gene (TERT) paradoxically confer higher IEAA (P

Published
2018

3. Associations of autozygosity with a broad range of human phenotypes

Author

Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, de Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, van der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, van der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, de Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, de Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian’an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, de Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, van den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, van der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kumari, Meena, Laakso, Markku, van der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O’connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J. C., Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K. E., Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J. F., Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R. B., Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F

Published
2019
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4. Correction: Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Author

Lunetta, Kathryn L., Day, Felix R., Sulem, Patrick, Ruth, Katherine S., Tung, Joyce Y., Hinds, David A., Esko, Tõnu, Elks, Cathy E., Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E., Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J., Traglia, Michela, Wang, Carol A., Yerges-Armstrong, Laura M., Antoniou, Antonis C., Barbieri, Caterina, Coviello, Andrea D., Cucca, Francesco, Demerath, Ellen W., Dunning, Alison M., Gandin, Ilaria, Grove, Megan L., Gudbjartsson, Daniel F., Hocking, Lynne J., Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D., Karasik, David, Kriebel, Jennifer, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Li, Xin, Luan, Jian'an, Mägi, Reedik, Morrison, Alanna C., Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P., Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F., Schlessinger, David, Scott, Robert A., Stöckl, Doris, Visser, Jenny A., Völker, Uwe, Vozzi, Diego, Wilson, James G., Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E., Crisponi, Laura, Easton, Douglas F., Hayward, Caroline, Hu, Frank B., Liu, Simin, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Strauch, Konstantin, Streeten, Elizabeth A., Toniolo, Daniela, Uitterlinden, André G., Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I., Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M., Ong, Ken K., and Perry, John R. B.

Published
2015
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5. GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health

Author

Zhao, Yajie, primary, Stankovic, Stasa, additional, Koprulu, Mine, additional, Wheeler, Eleanor, additional, Day, Felix R., additional, Lango Allen, Hana, additional, Kerrison, Nicola D., additional, Pietzner, Maik, additional, Loh, Po-Ru, additional, Wareham, Nicholas J., additional, Langenberg, Claudia, additional, Ong, Ken K., additional, and Perry, John R. B., additional

Published
2021
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7. Elucidating the genetic architecture of reproductive ageing in the Japanese population

Author

Horikoshi, Momoko, primary, Day, Felix R., additional, Akiyama, Masato, additional, Hirata, Makoto, additional, Kamatani, Yoichiro, additional, Matsuda, Koichi, additional, Ishigaki, Kazuyoshi, additional, Kanai, Masahiro, additional, Wright, Hollis, additional, Toro, Carlos A., additional, Ojeda, Sergio R., additional, Lomniczi, Alejandro, additional, Kubo, Michiaki, additional, Ong, Ken K., additional, and Perry, John. R. B., additional

Published
2018
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8. 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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9. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author

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

Published
2016
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10. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

Lu, Yingchang, primary, Day, Felix R., additional, Gustafsson, Stefan, additional, Buchkovich, Martin L., additional, Na, Jianbo, additional, Bataille, Veronique, additional, Cousminer, Diana L., additional, Dastani, Zari, additional, Drong, Alexander W., additional, Esko, Tõnu, additional, Evans, David M., additional, Falchi, Mario, additional, Feitosa, Mary F., additional, Ferreira, Teresa, additional, Hedman, Åsa K., additional, Haring, Robin, additional, Hysi, Pirro G., additional, Iles, Mark M., additional, Justice, Anne E., additional, Kanoni, Stavroula, additional, Lagou, Vasiliki, additional, Li, Rui, additional, Li, Xin, additional, Locke, Adam, additional, Lu, Chen, additional, Mägi, Reedik, additional, Perry, John R. B., additional, Pers, Tune H., additional, Qi, Qibin, additional, Sanna, Marianna, additional, Schmidt, Ellen M., additional, Scott, William R., additional, Shungin, Dmitry, additional, Teumer, Alexander, additional, Vinkhuyzen, Anna A. E., additional, Walker, Ryan W., additional, Westra, Harm-Jan, additional, Zhang, Mingfeng, additional, Zhang, Weihua, additional, Zhao, Jing Hua, additional, Zhu, Zhihong, additional, Afzal, Uzma, additional, Ahluwalia, Tarunveer Singh, additional, Bakker, Stephan J. L., additional, Bellis, Claire, additional, Bonnefond, Amélie, additional, Borodulin, Katja, additional, Buchman, Aron S., additional, Cederholm, Tommy, additional, Choh, Audrey C., additional, Choi, Hyung Jin, additional, Curran, Joanne E., additional, de Groot, Lisette C. P. G. M., additional, De Jager, Philip L., additional, Dhonukshe-Rutten, Rosalie A. M., additional, Enneman, Anke W., additional, Eury, Elodie, additional, Evans, Daniel S., additional, Forsen, Tom, additional, Friedrich, Nele, additional, Fumeron, Frédéric, additional, Garcia, Melissa E., additional, Gärtner, Simone, additional, Han, Bok-Ghee, additional, Havulinna, Aki S., additional, Hayward, Caroline, additional, Hernandez, Dena, additional, Hillege, Hans, additional, Ittermann, Till, additional, Kent, Jack W., additional, Kolcic, Ivana, additional, Laatikainen, Tiina, additional, Lahti, Jari, additional, Leach, Irene Mateo, additional, Lee, Christine G., additional, Lee, Jong-Young, additional, Liu, Tian, additional, Liu, Youfang, additional, Lobbens, Stéphane, additional, Loh, Marie, additional, Lyytikäinen, Leo-Pekka, additional, Medina-Gomez, Carolina, additional, Michaëlsson, Karl, additional, Nalls, Mike A., additional, Nielson, Carrie M., additional, Oozageer, Laticia, additional, Pascoe, Laura, additional, Paternoster, Lavinia, additional, Polašek, Ozren, additional, Ripatti, Samuli, additional, Sarzynski, Mark A., additional, Shin, Chan Soo, additional, Narančić, Nina Smolej, additional, Spira, Dominik, additional, Srikanth, Priya, additional, Steinhagen-Thiessen, Elisabeth, additional, Sung, Yun Ju, additional, Swart, Karin M. A., additional, Taittonen, Leena, additional, Tanaka, Toshiko, additional, Tikkanen, Emmi, additional, van der Velde, Nathalie, additional, van Schoor, Natasja M., additional, Verweij, Niek, additional, Wright, Alan F., additional, Yu, Lei, additional, Zmuda, Joseph M., additional, Eklund, Niina, additional, Forrester, Terrence, additional, Grarup, Niels, additional, Jackson, Anne U., additional, Kristiansson, Kati, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Lichtner, Peter, additional, Luan, Jian'an, additional, Mahajan, Anubha, additional, Männistö, Satu, additional, Palmer, Cameron D., additional, Ried, Janina S., additional, Scott, Robert A., additional, Stancáková, Alena, additional, Wagner, Peter J., additional, Demirkan, Ayse, additional, Döring, Angela, additional, Gudnason, Vilmundur, additional, Kiel, Douglas P., additional, Kühnel, Brigitte, additional, Mangino, Massimo, additional, Mcknight, Barbara, additional, Menni, Cristina, additional, O'Connell, Jeffrey R., additional, Oostra, Ben A., additional, Shuldiner, Alan R., additional, Song, Kijoung, additional, Vandenput, Liesbeth, additional, van Duijn, Cornelia M., additional, Vollenweider, Peter, additional, White, Charles C., additional, Boehnke, Michael, additional, Boettcher, Yvonne, additional, Cooper, Richard S., additional, Forouhi, Nita G., additional, Gieger, Christian, additional, Grallert, Harald, additional, Hingorani, Aroon, additional, Jørgensen, Torben, additional, Jousilahti, Pekka, additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Laakso, Markku, additional, Langenberg, Claudia, additional, Linneberg, Allan, additional, Luke, Amy, additional, Mckenzie, Colin A., additional, Palotie, Aarno, additional, Pedersen, Oluf, additional, Peters, Annette, additional, Strauch, Konstantin, additional, Tayo, Bamidele O., additional, Wareham, Nicholas J., additional, Bennett, David A., additional, Bertram, Lars, additional, Blangero, John, additional, Blüher, Matthias, additional, Bouchard, Claude, additional, Campbell, Harry, additional, Cho, Nam H., additional, Cummings, Steven R., additional, Czerwinski, Stefan A., additional, Demuth, Ilja, additional, Eckardt, Rahel, additional, Eriksson, Johan G., additional, Ferrucci, Luigi, additional, Franco, Oscar H., additional, Froguel, Philippe, additional, Gansevoort, Ron T., additional, Hansen, Torben, additional, Harris, Tamara B., additional, Hastie, Nicholas, additional, Heliövaara, Markku, additional, Hofman, Albert, additional, Jordan, Joanne M., additional, Jula, Antti, additional, Kähönen, Mika, additional, Kajantie, Eero, additional, Knekt, Paul B., additional, Koskinen, Seppo, additional, Kovacs, Peter, additional, Lehtimäki, Terho, additional, Lind, Lars, additional, Liu, Yongmei, additional, Orwoll, Eric S., additional, Osmond, Clive, additional, Perola, Markus, additional, Pérusse, Louis, additional, Raitakari, Olli T., additional, Rankinen, Tuomo, additional, Rao, D. C., additional, Rice, Treva K., additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Sørensen, Thorkild I. A., additional, Stumvoll, Michael, additional, Tönjes, Anke, additional, Towne, Bradford, additional, Tranah, Gregory J., additional, Tremblay, Angelo, additional, Uitterlinden, André G., additional, van der Harst, Pim, additional, Vartiainen, Erkki, additional, Viikari, Jorma S., additional, Vitart, Veronique, additional, Vohl, Marie-Claude, additional, Völzke, Henry, additional, Walker, Mark, additional, Wallaschofski, Henri, additional, Wild, Sarah, additional, Wilson, James F., additional, Yengo, Loïc, additional, Bishop, D. Timothy, additional, Borecki, Ingrid B., additional, Chambers, John C., additional, Cupples, L. Adrienne, additional, Dehghan, Abbas, additional, Deloukas, Panos, additional, Fatemifar, Ghazaleh, additional, Fox, Caroline, additional, Furey, Terrence S., additional, Franke, Lude, additional, Han, Jiali, additional, Hunter, David J., additional, Karjalainen, Juha, additional, Karpe, Fredrik, additional, Kaplan, Robert C., additional, Kooner, Jaspal S., additional, McCarthy, Mark I., additional, Murabito, Joanne M., additional, Morris, Andrew P., additional, Bishop, Julia A. N., additional, North, Kari E., additional, Ohlsson, Claes, additional, Ong, Ken K., additional, Prokopenko, Inga, additional, Richards, J. Brent, additional, Schadt, Eric E., additional, Spector, Tim D., additional, Widén, Elisabeth, additional, Willer, Cristen J., additional, Yang, Jian, additional, Ingelsson, Erik, additional, Mohlke, Karen L., additional, Hirschhorn, Joel N., additional, Pospisilik, John Andrew, additional, Zillikens, M. Carola, additional, Lindgren, Cecilia, additional, Kilpeläinen, Tuomas Oskari, additional, and Loos, Ruth J. F., additional

Published
2016
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11. Elucidating the genetic architecture of reproductive ageing in the Japanese population.

Author

Momoko Horikoshi, Day, Felix R., Masato Akiyama, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Kazuyoshi Ishigaki, Masahiro Kanai, Wright, Hollis, Toro, Carlos A., Ojeda, Sergio R., Lomniczi, Alejandro, Kubo, Michiaki, Ong, Ken K., and Perry, John R. B.

Subjects
POPULATION aging, PHOSPHOPROTEIN phosphatases, POPULATION genetics, GENE expression, GENE frequency, PROTEIN-tyrosine phosphatase
Abstract

Population studies elucidating the genetic architecture of reproductive ageing have been largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured by common European genetic variation. Here, we report 26 loci (all P < 5 × 10-8) for reproductive ageing, i.e. puberty timing or age at menopause, in a non-European population (up to 67,029 women of Japanese ancestry). Highlighted genes for menopause include GNRH1, which supports a primary, rather than passive, role for hypothalamic-pituitary GnRH signalling in the timing of menopause. For puberty timing, we demonstrate an aetiological role for receptor-like protein tyrosine phosphatases by combining evidence across population genetics and pre- and peri-pubertal changes in hypothalamic gene expression in rodent and primate models. Furthermore, our findings demonstrate widespread differences in allele frequencies and effect estimates between Japanese and European associated variants, highlighting the benefits and challenges of large-scale trans-ethnic approaches. [ABSTRACT FROM AUTHOR]

Published
2018
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13. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Author

Day, Felix R., primary, Hinds, David A., additional, Tung, Joyce Y., additional, Stolk, Lisette, additional, Styrkarsdottir, Unnur, additional, Saxena, Richa, additional, Bjonnes, Andrew, additional, Broer, Linda, additional, Dunger, David B., additional, Halldorsson, Bjarni V., additional, Lawlor, Debbie A., additional, Laval, Guillaume, additional, Mathieson, Iain, additional, McCardle, Wendy L., additional, Louwers, Yvonne, additional, Meun, Cindy, additional, Ring, Susan, additional, Scott, Robert A., additional, Sulem, Patrick, additional, Uitterlinden, André G., additional, Wareham, Nicholas J., additional, Thorsteinsdottir, Unnur, additional, Welt, Corrine, additional, Stefansson, Kari, additional, Laven, Joop S. E., additional, Ong, Ken K., additional, and Perry, John R. B., additional

Published
2015
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14. Elucidating the genetic basis of social interaction and isolation

Author

Felix R. Day, Ken K. Ong, John R. B. Perry, Day, Felix R [0000-0003-3789-7651], Ong, Ken K [0000-0003-4689-7530], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Adult, Male, Science, General Physics and Astronomy, Genome-wide association study, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Interpersonal relationship, 0302 clinical medicine, Risk Factors, medicine, Humans, Emotional expression, Interpersonal Relations, Social isolation, Multidisciplinary, Depression, Genome, Human, Loneliness, General Chemistry, Genomics, Biobank, Social relation, 030104 developmental biology, Trait, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Clinical psychology, Genome-Wide Association Study
Abstract

The negative impacts of social isolation and loneliness on health are well documented. However, little is known about their possible biological determinants. In up to 452,302 UK Biobank study participants, we perform genome-wide association study analyses for loneliness and regular participation in social activities. We identify 15 genomic loci (P −8) for loneliness, and demonstrate a likely causal association between adiposity and increased susceptibility to loneliness and depressive symptoms. Further loci were identified for regular attendance at a sports club or gym (N = 6 loci), pub or social club (N = 13) or religious group (N = 18). Across these traits there was strong enrichment for genes expressed in brain regions that control emotional expression and behaviour. We demonstrate aetiological mechanisms specific to each trait, in addition to identifying loci that are pleiotropic across multiple complex traits. Further study of these traits may identify novel modifiable risk factors associated with social withdrawal and isolation.

Published
2018

15. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan.

Author

Hollis B, Day FR, Busch AS, Thompson DJ, Soares ALG, Timmers PRHJ, Kwong A, Easton DF, Joshi PK, Timpson NJ, Ong KK, and Perry JRB

Subjects
Adult, Age Factors, Cohort Studies, Female, Genome-Wide Association Study, Humans, Male, Menarche genetics, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Time Factors, Young Adult, Hair Color genetics, Longevity genetics, Puberty genetics, Sexual Maturation genetics
Abstract

The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report a multi-trait genome-wide association study for male puberty timing with an effective sample size of 205,354 men. We find moderately strong genomic correlation in puberty timing between sexes (rg = 0.68) and identify 76 independent signals for male puberty timing. Implicated mechanisms include an unexpected link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and Mendelian randomization analyses show a genetic association between male puberty timing and shorter lifespan. These findings highlight the relationships between puberty timing and health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes.

Published
2020
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16. Rare coding variants and X-linked loci associated with age at menarche.

Author

Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, Huffman JE, Mihailov E, Porcu E, Robino A, Rose LM, Schick UM, Stolk L, Teumer A, Thompson DJ, Traglia M, Wang CA, Yerges-Armstrong LM, Antoniou AC, Barbieri C, Coviello AD, Cucca F, Demerath EW, Dunning AM, Gandin I, Grove ML, Gudbjartsson DF, Hocking LJ, Hofman A, Huang J, Jackson RD, Karasik D, Kriebel J, Lange EM, Lange LA, Langenberg C, Li X, Luan J, Mägi R, Morrison AC, Padmanabhan S, Pirie A, Polasek O, Porteous D, Reiner AP, Rivadeneira F, Rudan I, Sala CF, Schlessinger D, Scott RA, Stöckl D, Visser JA, Völker U, Vozzi D, Wilson JG, Zygmunt M, Boerwinkle E, Buring JE, Crisponi L, Easton DF, Hayward C, Hu FB, Liu S, Metspalu A, Pennell CE, Ridker PM, Strauch K, Streeten EA, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Wellons M, Franceschini N, Chasman DI, Thorsteinsdottir U, Murray A, Stefansson K, Murabito JM, Ong KK, and Perry JR

Subjects
Adolescent, Adult, Age Factors, Aged, Amides, Cell Cycle Proteins, Chromosomes, Human, X genetics, Codon, Nonsense, Energy Metabolism genetics, Fatty Acids, Female, Gene Frequency, Genes, X-Linked genetics, Genetic Variation, Genotype, Humans, Hypogonadism genetics, Middle Aged, Mutation, Missense, Penetrance, Phenotype, RNA Interference, Signal Transduction genetics, White People genetics, Young Adult, AMP-Activated Protein Kinases genetics, Autoantigens genetics, Immunoglobulins genetics, Laminin genetics, Membrane Proteins genetics, Menarche genetics, Proteins genetics, RNA-Binding Proteins genetics, Receptors, Neurokinin-3 genetics
Abstract

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P<5 × 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P=9.4 × 10(-13)) and FAAH2 (rs5914101, P=4.9 × 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P=2.8 × 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain ∼0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.

Published
2015
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