Authors
Iain Mathieson, Felix R Day, Nicola Barban, Felix C Tropf, David M Brazel, eQTLGen Consortium, BIOS Consortium van Heemst Diana 47, Ahmad Vaez, Natalie van Zuydam, Bárbara D Bitarello, Eugene J Gardner, Evelina T Akimova, Ajuna Azad, Sven Bergmann, Lawrence F Bielak, Dorret I Boomsma, Kristina Bosak, Marco Brumat, Julie E Buring, David Cesarini, Daniel I Chasman, Jorge E Chavarro, Massimiliano Cocca, Maria Pina Concas, George Davey Smith, Gail Davies, Ian J Deary, Tõnu Esko, Jessica D Faul, FinnGen Study, Oscar Franco, Andrea Ganna, Audrey J Gaskins, Andrea Gelemanovic, Eco JC de Geus, Christian Gieger, Giorgia Girotto, Bamini Gopinath, Hans Jörgen Grabe, Erica P Gunderson, Caroline Hayward, Chunyan He, Diana van Heemst, W David Hill, Eva R Hoffmann, Georg Homuth, Jouke Jan Hottenga, Hongyang Huang, Elina Hyppӧnen, M Arfan Ikram, Rick Jansen, Magnus Johannesson, Zoha Kamali, Sharon LR Kardia, Maryam Kavousi, Annette Kifley, Tuomo Kiiskinen, Peter Kraft, Brigitte Kühnel, Claudia Langenberg, Gerald Liew, Lifelines Cohort Study van der Most Peter J. 8, Penelope A Lind, Jian’an Luan, Reedik Mägi, Patrik KE Magnusson, Anubha Mahajan, Nicholas G Martin, Hamdi Mbarek, Mark I McCarthy, George McMahon, Sarah E Medland, Thomas Meitinger, Andres Metspalu, Evelin Mihailov, Lili Milani, Stacey A Missmer, Paul Mitchell, Stine Møllegaard, Dennis O Mook-Kanamori, Anna Morgan, Peter J van der Most, Renée de Mutsert, Matthias Nauck, Ilja M Nolte, Raymond Noordam, Brenda WJH Penninx, Annette Peters, Patricia A Peyser, Ozren Polašek, Chris Power, Ajka Pribisalic, Paul Redmond, Janet W Rich-Edwards, Paul M Ridker, Cornelius A Rietveld, Susan M Ring, Lynda M Rose, Rico Rueedi, Vallari Shukla, Jennifer A Smith, Stasa Stankovic, Kári Stefánsson, Doris Stöckl, Konstantin Strauch, Morris A Swertz, Alexander Teumer, Gudmar Thorleifsson, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Constance Turman, André G Uitterlinden, Melanie Waldenberger, Nicholas J Wareham, David R Weir, Gonneke Willemsen, Jing Hau Zhao, Wei Zhao, Yajie Zhao, Harold Snieder, Marcel den Hoed, Ken K Ong, Melinda C Mills, John RB Perry
Publication date
2023/5
Journal
Nature human behaviour
Volume
7
Issue
5
Pages
790-801
Publisher
Nature Publishing Group UK
Description
Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified 43 genomic loci associated with either number of children ever born (NEB) or childlessness. These loci span diverse aspects of reproductive biology, including puberty timing, age at first birth, sex hormone regulation, endometriosis and age at menopause. Missense variants in ARHGAP27 were associated with higher NEB but shorter reproductive lifespan, suggesting a trade-off at this locus between reproductive ageing and intensity. Other genes implicated by coding variants include PIK3IP1, ZFP82 and LRP4, and our results suggest a new role for the melanocortin 1 receptor (MC1R) in reproductive biology. As NEB is one component of evolutionary fitness, our identified associations indicate loci …
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I Mathieson, FR Day, N Barban, FC Tropf, DM Brazel… - Nature human behaviour, 2023
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