Genome-wide analysis identifies 12 loci influencing human reproductive behavior

被引：179

作者：

Barban, Nicola ^{[1
,2
]}

Jansen, Rick ^{[3
]}

de Vlaming, Ronald ^{[4
,5
,6
]}

Vaez, Ahmad ^{[7
,8
]}

Mandemakers, Jornt J. ^{[9
]}

Tropf, Felix C. ^{[1
,2
]}

Shen, Xia ^{[10
,11
,12
]}

Wilson, James F. ^{[11
,12
]}

Chasman, Daniel I. ^{[13
,14
]}

Nolte, Illa M. ^{[7
]}

Tragante, Vinicius ^{[15
]}

van der Laan, Sander W. ^{[16
]}

Perry, John R. B. ^{[17
]}

Kong, Augustine ^{[18
,19
]}

Ahluwalia, Tarunveer S. ^{[20
,21
,22
]}

Albrecht, Eva ^{[23
]}

Yerges-Armstrong, Laura ^{[24
]}

Atzmon, Gil ^{[25
,26
,27
,28
]}

Auro, Kirsi ^{[29
,30
]}

Ayers, Kristin ^{[31
]}

Bakshi, Andrew ^{[32
]}

Ben-Avraham, Danny ^{[27
]}

Berger, Klaus ^{[33
]}

Bergman, Aviv ^{[34
,35
,36
]}

Bertram, Lars ^{[37
,38
,39
]}

Bielak, Lawrence F. ^{[40
]}

Bjornsdottir, Gyda ^{[19
]}

Bonder, Marc Jan ^{[41
]}

Broer, Linda ^{[42
]}

Bui, Minh ^{[43
]}

Barbieri, Caterina ^{[44
]}

Cavadino, Alana ^{[45
,46
]}

Chavarro, Jorge E. ^{[47
,48
,49
,50
]}

Turman, Constance ^{[50
]}

Concas, Maria Pina ^{[51
]}

Cordell, Heather J. ^{[31
]}

Davies, Gail ^{[52
,53
]}

Eibich, Peter ^{[54
]}

Eriksson, Nicholas ^{[55
]}

Esko, Tonu ^{[57
]}

Eriksson, Joel ^{[58
]}

Falahi, Fahimeh ^{[7
]}

Felix, Janine F. ^{[5
,59
,60
]}

Fontana, Mark Alan ^{[61
]}

Franke, Lude ^{[41
]}

Gandin, Ilaria ^{[62
]}

Gaskins, Audrey J. ^{[47
]}

Gieger, Christian ^{[63
,64
]}

Gunderson, Erica P. ^{[65
]}

Guo, Xiuqing ^{[66
]}

机构：

[1] Univ Oxford, Dept Sociol, Oxford, England

[2] Univ Oxford, Nuffield Coll, Oxford, England

[3] Vrije Univ Amsterdam Med Ctr, Dept Psychiat, Amsterdam, Netherlands

[4] Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands

[5] Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands

[6] Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands

[7] Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands

[8] Isfahan Univ Med Sci, Res Inst Primordial Prevent Noncommunicable Dis, Esfahan, Iran

[9] Wageningen Univ Res, Sociol Consumpt & Households, Wageningen, Netherlands

[10] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[11] Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland

[12] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland

[13] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA

[14] Harvard Med Sch, Boston, MA USA

[15] Univ Med Ctr Utrecht, Div Heart & Lungs, Dept Cardiol, Utrecht, Netherlands

[16] Univ Med Ctr Utrecht, Div Heart & Lungs, Lab Expt Cardiol, Utrecht, Netherlands

[17] Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England

[18] Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland

[19] Amgen Inc, deCODE Genet, Reykjavik, Iceland

[20] Univ Copenhagen, Fac Hlth & Med Sci, Sect Metab Genet, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark

[21] Steno Diabet Ctr, Gentofte, Denmark

[22] Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, Copenhagen, Denmark

[23] Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Genet Epidemiol, Neuherberg, Germany

[24] Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA

[25] Albert Einstein Coll Med, Dept Med, Inst Aging Res, Bronx, NY 10467 USA

[26] Albert Einstein Coll Med, Diabet Res Ctr, Bronx, NY 10467 USA

[27] Albert Einstein Coll Med, Inst Aging Res, Dept Genet, Bronx, NY 10467 USA

[28] Univ Haifa, Dept Nat Sci, Haifa, Israel

[29] Natl Inst Hlth & Welf, Dept Hlth, Helsinki, Finland

[30] Univ Helsinki, Inst Mol Med FIMM, Helsinki, Finland

[31] Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

[32] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia

[33] Univ Munster, Inst Epidemiol & Social Med, Munster, Germany

[34] Albert Einstein Coll Med, Dept Syst & Computat Biol, Bronx, NY 10467 USA

[35] Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10467 USA

[36] Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10467 USA

[37] Univ Lubeck, Lubeck Interdisciplinary Platform Genome Analyt, Inst Neurogenet, Lubeck, Germany

[38] Univ Lubeck, Inst Integrat & Expt Genom, Lubeck, Germany

[39] Imperial Coll, Fac Med, Sch Publ Hlth, London, England

[40] Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA

[41] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands

[42] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands

[43] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia

[44] San Raffaele Res Inst, Div Genet & Cell Biol, Milan, Italy

[45] UCL Inst Child Hlth, Populat Policy & Practice, London, England

[46] Queen Mary Univ London, Wolfson Inst Preventat Med, Ctr Environm & Prevent Med, London, England

[47] Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA USA

[48] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA

[49] Harvard Med Sch, Boston, MA USA

[50] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

来源：

NATURE GENETICS | 2016年 / 48卷 / 12期

基金：

瑞典研究理事会; 美国国家卫生研究院; 美国国家科学基金会; 欧洲研究理事会; 英国惠康基金;

关键词：

POLYCYSTIC-OVARY-SYNDROME; GENE POLYMORPHISMS; QUALITY-CONTROL; HUMAN-DISEASES; ASSOCIATION; FERTILITY; INSIGHTS; PROTEIN; MOUSE; TRANSLOCATION;

D O I：

10.1038/ng.3698

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1462 / 1472

页数：11

共 50 条

[41] Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels
Nag, Abhishek
Kurushima, Yuko
Bowyer, Ruth C. E.
Wells, Philippa M.
Weiss, Stefan
Pietzner, Maik
Kocher, Thomas
Raffler, Johannes
Voelker, Uwe
Mangino, Massimo
Spector, Timothy D.
Milburn, Michael V.
Kastenmueller, Gabi
Mohney, Robert P.
Suhre, Karsten
Menni, Cristina
Steves, Claire J.
HUMAN MOLECULAR GENETICS, 2020, 29 (05) : 864 - 875
[42] Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus
Kunz, Manfred
Koenig, Inke R.
Schillert, Arne
Kruppa, Jochen
Ziegler, Andreas
Grallert, Harald
Mueller-Nurasyid, Martina
Lieb, Wolfgang
Franke, Andre
Ranki, Annamari
Panelius, Jaana
Koskenmies, Sari
Hasan, Taina
Kere, Juha
Roenn, Ann-Charlotte
Simon, Jan C.
Schmidt, Enno
Wenzel, Joerg
Tueting, Thomas
Landsberg, Jennifer
Zeller, Tanja
Blankenberg, Stefan
Glaeser, Regine
Patsinakidis, Nikolaos
Kuhn, Annegret
Ibrahim, Saleh M.
EXPERIMENTAL DERMATOLOGY, 2015, 24 (07) : 510 - 515
[43] A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population
Nakashima, Mitsuko
Chung, Suyoun
Takahashi, Atsushi
Kamatani, Naoyuki
Kawaguchi, Takahisa
Tsunoda, Tatsuhiko
Hosono, Naoya
Kubo, Michiaki
Nakamura, Yusuke
Zembutsu, Hitoshi
NATURE GENETICS, 2010, 42 (09) : 768 - U56
[44] Commentary: Genome-wide association study identifies 74 loci associated with educational attainment
Hernandez, Felix
Avila, Jesus
FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 10
[45] Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci
Flaquer, Antonia
Baumbach, Clemens
Pinero, Estefania
Garcia Algas, Fernando
de la Fuente Sanchez, Maria Angeles
Rosell, Jordi
Toquero, Jorge
Alonso-Pulpon, Luis
Garcia-Pavia, Pablo
Strauch, Konstantin
Heine-Suner, Damian
BMC GENETICS, 2013, 14
[46] Commentary on "Genome-wide meta-analysis identifies novel susceptibility loci for autoimmune hepatitis type 1"
Mulcahy, Victoria L.
Mells, George F.
HEPATOLOGY, 2022, 76 (03) : 541 - 543
[47] Genome-wide expression quantitative trait loci analysis in asthma
Bosse, Yohan
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 13 (05) : 487 - 494
[48] Genome-wide association study identifies multiple risk loci for renal cell carcinoma
Scelo, Ghislaine
Purdue, Mark P.
Brown, Kevin M.
Johansson, Mattias
Wang, Zhaoming
Eckel-Passow, Jeanette E.
Ye, Yuanqing
Hofmann, Jonathan N.
Choi, Jiyeon
Foll, Matthieu
Gaborieau, Valerie
Machiela, Mitchell J.
Colli, Leandro M.
Li, Peng
Sampson, Joshua N.
Abedi-Ardekani, Behnoush
Besse, Celine
Blanche, Helene
Boland, Anne
Burdette, Laurie
Chabrier, Amelie
Durand, Geoffroy
Le Calvez-Kelm, Florence
Prokhortchouk, Egor
Robinot, Nivonirina
Skryabin, Konstantin G.
Wozniak, Magdalena B.
Yeager, Meredith
Basta-Jovanovic, Gordana
Dzamic, Zoran
Foretova, Lenka
Holcatova, Ivana
Janout, Vladimir
Mates, Dana
Mukeriya, Anush
Rascu, Stefan
Zaridze, David
Bencko, Vladimir
Cybulski, Cezary
Fabianova, Eleonora
Jinga, Viorel
Lissowska, Jolanta
Lubinski, Jan
Navratilova, Marie
Rudnai, Peter
Szeszenia-Dabrowska, Neonila
Benhamou, Simone
Cancel-Tassin, Geraldine
Cussenot, Olivier
Baglietto, Laura
NATURE COMMUNICATIONS, 2017, 8
[49] Informed Genome-Wide Association Analysis With Family History As a Secondary Phenotype Identifies Novel Loci of Lung Cancer
Poirier, Julia G.
Brennan, Paul
McKay, James D.
Spitz, Margaret R.
Bickeboeller, Heike
Risch, Angela
Liu, Geoffrey
Le Marchand, Loic
Tworoger, Shelley
McLaughlin, John
Rosenberger, Albert
Heinrich, Joachim
Brueske, Irene
Muley, Thomas
Henderson, Brian E.
Wilkens, Lynne R.
Zong, Xuchen
Li, Yafang
Hao, Ke
Timens, Wim
Bosse, Yohan
Sin, Don D.
Obeidat, Ma'en
Amos, Christopher I.
Hung, Rayjean J.
GENETIC EPIDEMIOLOGY, 2015, 39 (03) : 197 - 206
[50] Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Abou-Khalil, Bassel
Auce, Pauls
Avbersek, Andreja
Bahlo, Melanie
Balding, David J.
Bast, Thomas
Baum, Larry
Becker, Albert J.
Becker, Felicitas
Berghuis, Bianca
Berkovic, Samuel F.
Boysen, Katja E.
Bradfield, Jonathan P.
Brody, Lawrence C.
Buono, Russell J.
Campbell, Ellen
Cascino, Gregory D.
Catarino, Claudia B.
Cavalleri, Gianpiero L.
Cherny, Stacey S.
Chinthapalli, Krishna
Coffey, Alison J.
Compston, Alastair
Coppola, Antonietta
Cossette, Patrick
Craig, John J.
de Haan, Gerrit-Jan
De Jonghe, Peter
de Kovel, Carolien G. F.
Delanty, Norman
Depondt, Chantal
Devinsky, Orrin
Dlugos, Dennis J.
Doherty, Colin P.
Elger, Christian E.
Eriksson, Johan G.
Ferraro, Thomas N.
Feucht, Martha
Francis, Ben
Franke, Andre
French, Jacqueline A.
Freytag, Saskia
Gaus, Verena
Geller, Eric B.
Gieger, Christian
Glauser, Tracy
Glynn, Simon
Goldstein, David B.
Gui, Hongsheng
Guo, Youling
NATURE COMMUNICATIONS, 2018, 9

← 1 2 3 4 5 →