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Genome-wide analysis identifies 12 loci influencing human reproductive behavior

2016; Nature Portfolio; Volume: 48; Issue: 12 Linguagem: Inglês

10.1038/ng.3698

1546-1718

Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J. Mandemakers, Felix C. Tropf, Xia Shen, James F. Wilson, Daniel I. Chasman, Ilja M. Nolte, Vinicius Tragante, Sander W. van der Laan, John R. B. Perry, Augustine Kong, Tarunveer S. Ahluwalia, Eva Albrecht, Laura M. Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin L. Ayers, Andrew Bakshi, Danny Ben‐Avraham, Kenneth I. Berger, Aviv Bergman, Lars Bertram, Lawrence F. Bielak, Gyða Björnsdóttir, Marc Jan Bonder, Linda Broer, Minh Bui, Caterina Barbieri, Alana Cavadino, Jorge E. Chavarro, Constance Turman, Maria Pina Concas, Heather J. Cordell, Gail Davies, Peter Eibich, Nicholas Eriksson, Tõnu Esko, Joel Eriksson, Fahimeh Falahi, Janine F. Felix, Mark Alan Fontana, Lude Franke, Ilaria Gandin, Audrey J. Gaskins, Christian Gieger, Erica P. Gunderson, Xiuqing Guo, Caroline Hayward, Chunyan He, Edith Hofer, Hongyan Huang, Peter K. Joshi, Stavroula Kanoni, Robert Karlsson, Stefan Kiechl, Annette Kifley, Alexander Kluttig, Peter Kraft, Vasiliki Lagou, Cécile Lecœur, Jari Lahti, Ruifang Li‐Gao, Penelope A. Lind, Tian Liu, Enes Makalic, Crysovalanto Mamasoula, Lindsay Matteson, Hamdi Mbarek, Patrick F. McArdle, George McMahon, S. Fleur W. Meddens, Evelin Mihailov, Mike Miller, Stacey A. Missmer, Claire Monnereau, Peter J. van der Most, Ronny Myhre, Mike A. Nalls, Teresa Nutile, Ioanna Panagiota Kalafati, Eleonora Porcu, Inga Prokopenko, Kumar B. Rajan, Janet W. Rich‐Edwards, Cornelius A. Rietveld, Antonietta Robino, Lynda M. Rose, Rico Rueedi, Kathleen A. Ryan, Yasaman Saba, Daniel Schmidt, Jennifer A. Smith, Lisette Stolk, Elizabeth A. Streeten, Anke Tönjes, Guðmar Þorleifsson, Sheila Ulivi, Juho Wedenoja, Juergen Wellmann, Peter Willeit, Jie Yao, Loïc Yengo, Wei Zhao, Wei Zhao, Daria V. Zhernakova, Najaf Amin, Howard Andrews, Beverley Balkau, Nir Barzilai, Sven Bergmann, Ginevra Biino, Hans Bisgaard, Klaus Bønnelykke, Dorret I. Boomsma, Julie E. Buring, Harry Campbell, Stefania Cappellani, Marina Ciullo, Simon R. Cox, Francesco Cucca, Daniela Toniolo, George Davey Smith, Ian J. Deary, George Dedoussis, Panos Deloukas, Cornelia M. van Duijn, Eco J. C. de Geus, Johan G. Eriksson, Denis A. Evans, Jessica D. Faul, Cinzia Sala, Philippe Froguel, Paolo Gasparini, Giorgia Girotto, Hans J. Grabe, Karin Halina Greiser, Patrick J. F. Groenen, Hugoline G. de Haan, Johannes Haerting, Tamara B. Harris, Andrew C. Heath, Kauko Heikkilä, Albert Hofman, Georg Homuth, Elizabeth G. Holliday, John L. Hopper, Elina Hyppönen, Bo Jacobsson, Vincent W. V. Jaddoe, Magnus Johannesson, Astanand Jugessur, Mika Kähönen, Eero Kajantie, Sharon L. R. Kardia, Bernard Keavney, Ivana Kolčić, Päivikki Koponen, Péter Kovács, Florian Kronenberg, Zoltán Kutalik, Martina La Bianca, Geneviève Lachance, William G. Iacono, Sandra Lai, Terho Lehtimäki, David C. Liewald, Cecilia M. Lindgren, Yongmei Liu, Robert Luben, Michael Lucht, Riitta Luoto, Per Magnus, Patrik K. E. Magnusson, Nicholas G. Martin, Matt McGue, Ruth McQuillan, Sarah E. Medland, Christa Meisinger, Dan Mellström, Andres Metspalu, Michela Traglia, Lili Milani, Paul Mitchell, Grant W. Montgomery, Dennis O. Mook‐Kanamori, Renée de Mutsert, Ellen A. Nøhr, Claes Ohlsson, Jørn Olsen, Ken K. Ong, Lavinia Paternoster, Alison Pattie, Brenda W.J.H. Penninx, Markus Perola, Patricia A. Peyser, Mario Pirastu, Ozren Polašek, Chris Power, Jaakko Kaprio, Leslie J. Raffel, Katri Räikkönen, Olli T. Raitakari, Paul M. Ridker, Susan M. Ring, Kathryn Roll, Igor Rudan, Daniela Ruggiero, Dan Rujescu, Veikko Salomaa, David Schlessinger, Helena Schmidt, Reinhold Schmidt, Nicole Schupf, Johannes H. Smit, Rossella Sorice, Tim D. Spector, John M. Starr, Doris Stöckl, Konstantin Strauch, Michael Stümvoll, Morris A. Swertz, Unnur Þorsteinsdóttir, Roy Thurik, Nicholas J. Timpson, Joyce Y. Tung, André G. Uitterlinden, Simona Vaccargiu, Jorma Viikari, Véronique Vitart, Henry Völzke, Péter Vollenweider, Dragana Vuckovic, Johannes Waage, Gert G. Wagner, Jie Jin Wang, Nicholas J. Wareham, David R. Weir, Gonneke Willemsen, Johann Willeit, Alan F. Wright, Krina T. Zondervan, Kāri Stefánsson, Robert F. Krueger, James J. Lee, Daniel J. Benjamin, David Cesarini, Philipp Koellinger, Marcel den Hoed, Harold Snieder, Melinda Mills,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.