Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Barban, N; Jansen, R; de Vlaming, R; Vaez, A; Mandemakers, JJ; Tropf, FC; Shen, X; Wilson, JF; Chasman, DI; Nolte, IM; Tragante, V; van der Laan, SW; Perry, JRB; Kong, A; BIOS Consortium, ; Ahluwalia, TS; Albrecht, E; Yerges-Armstrong, L; Atzmon, G; Auro, K; Ayers, K; Bakshi, A; Ben-Avraham, D; Berger, K; Bergman, A; Bertram, L; Bielak, LF; Bjornsdottir, G; Bonder, MJ; Broer, L; Bui, M; Barbieri, C; Cavadino, A; Chavarro, JE; Turman, C; Concas, MP; Cordell, HJ; Davies, G; Eibich, P; Eriksson, N; Esko, T; Eriksson, J; Falahi, F; Felix, JF; Fontana, MA; Franke, L; Gandin, I; Gaskins, AJ; Gieger, C; Gunderson, EP; Guo, X; Hayward, C; He, C; Hofer, E; Huang, H; Joshi, PK; Kanoni, S; Karlsson, R; Kiechl, S; Kifley, A; Kluttig, A; Kraft, P; Lagou, V; Lecoeur, C; Lahti, J; Li-Gao, R; Lind, PA; Liu, T; Makalic, E; Mamasoula, C; Matteson, L; Mbarek, H; McArdle, PF; McMahon, G; Meddens, SFW; Mihailov, E; Miller, M; Missmer, SA; Monnereau, C; van der Most, PJ; Myhre, R; Nalls, MA; Nutile, T; Kalafati, IP; Porcu, E; Prokopenko, I; Rajan, KB; Rich-Edwards, J; Rietveld, CA; Robino, A; Rose, LM; Rueedi, R; Ryan, KA; Saba, Y; Schmidt, D; Smith, JA; Stolk, L; Streeten, E; Tönjes, A; Thorleifsson, G; Ulivi, S; Wedenoja, J; Wellmann, J; Willeit, P; Yao, J; Yengo, L; Zhao, JH; Zhao, W; Zhernakova, DV; Amin, N; Andrews, H; Balkau, B; Barzilai, N; Bergmann, S; Biino, G; Bisgaard, H; Bønnelykke, K; Boomsma, DI; Buring, JE; Campbell, H; Cappellani, S; Ciullo, M; Cox, SR; Cucca, F; Toniolo, D; Davey-Smith, G; Deary, IJ; Dedoussis, G; Deloukas, P; van Duijn, CM; de Geus, EJC; Eriksson, JG; Evans, DA; Faul, JD; Sala, CF; Froguel, P; Gasparini, P; Girotto, G; Grabe, H-J; Greiser, KH; Groenen, PJF; de Haan, HG; Haerting, J; Harris, TB; Heath, AC; Heikkilä, K; Hofman, A; Homuth, G; Holliday, EG; Hopper, J; Hyppönen, E; Jacobsson, B; Jaddoe, VWV; Johannesson, M; Jugessur, A; Kähönen, M; Kajantie, E; Kardia, SLR; Keavney, B; Kolcic, I; Koponen, P; Kovacs, P; Kronenberg, F; Kutalik, Z; La Bianca, M; Lachance, G; Iacono, WG; Lai, S; Lehtimäki, T; Liewald, DC; LifeLines Cohort Study, ; Lindgren, CM; Liu, Y; Luben, R; Lucht, M; Luoto, R; Magnus, P; Magnusson, PKE; Martin, NG; McGue, M; McQuillan, R; Medland, SE; Meisinger, C; Mellström, D; Metspalu, A; Traglia, M; Milani, L; Mitchell, P; Montgomery, GW; Mook-Kanamori, D; de Mutsert, R; Nohr, EA; Ohlsson, C; Olsen, J; Ong, KK; Paternoster, L; Pattie, A; Penninx, BWJH; Perola, M; Peyser, PA; Pirastu, M; Polasek, O; Power, C; Kaprio, J; Raffel, LJ; Räikkönen, K; Raitakari, O; Ridker, PM; Ring, SM; Roll, K; Rudan, I; Ruggiero, D; Rujescu, D; Salomaa, V; Schlessinger, D; Schmidt, H; Schmidt, R; Schupf, N; Smit, J; Sorice, R; Spector, TD; Starr, JM; Stöckl, D; Strauch, K; Stumvoll, M; Swertz, MA; Thorsteinsdottir, U; Thurik, AR; Timpson, NJ; Tung, JY; Uitterlinden, AG; Vaccargiu, S; Viikari, J; Vitart, V; Völzke, H; Vollenweider, P; Vuckovic, D; Waage, J; Wagner, GG; Wang, JJ; Wareham, NJ; Weir, DR; Willemsen, G; Willeit, J; Wright, AF; Zondervan, KT; Stefansson, K; Krueger, RF; Lee, JJ; Benjamin, DJ; Cesarini, D; Koellinger, PD; den Hoed, M; Snieder, H; Mills, MC

Published Date

  • December 2016

Published In

Volume / Issue

  • 48 / 12

Start / End Page

  • 1462 - 1472

PubMed ID

  • 27798627

Pubmed Central ID

  • PMC5695684

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.3698

Language

  • eng

Conference Location

  • United States