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Mathieson, I.* ; Day, F.R.* ; Barban, N.* ; Tropf, F.C.* ; Brazel, D.M.* ; Vaez, A.* ; van Zuydam, N.* ; Bitarello, B.D.* ; Gardner, E.J.* ; Akimova, E.T.* ; Azad, A.* ; Bergmann, S.* ; Bielak, L.F.* ; Boomsma, D.* ; Bosak, K.* ; Brumat, M.* ; Buring, J.E.* ; Cesarini, D.* ; Chasman, D.* ; Chavarro, J.E.* ; Cocca, M.* ; Concas, M.P.* ; Davey Smith, G.* ; Davies, G.* ; Deary, I.J.* ; Esko, T.* ; Faul, J.D.* ; Franco, O.H.* ; Ganna, A.* ; Gaskins, A.J.* ; Gelemanović, A.* ; de Geus, E.J.C.* ; Gieger, C. ; Girotto, G.* ; Gopinath, B.* ; Grabe, H.J.* ; Gunderson, E.P.* ; Hayward, C.* ; He, C.* ; van Heemst, D.* ; Hill, W.D.* ; Hoffmann, E.R.* ; Homuth, G.* ; Hottenga, J.J.* ; Huang, H.* ; Hyppoenen, E.* ; Ikram, M.A.* ; Jansen, R.* ; Johannesson, M.* ; Kamali, Z.* ; Kardia, S.L.R.* ; Kavousi, M.* ; Kifley, A.* ; Kiiskinen, T.* ; Kraft, P.* ; Kühnel, B. ; Langenberg, C.* ; Liew, G.* ; Lind, P.A.* ; Luan, J.* ; Mägi, R.* ; Magnusson, P.K.E.* ; Mahajan, A.* ; Martin, N.G.* ; Mbarek, H.* ; McCarthy, M.* ; McMahon, G.* ; Medland, S.E.* ; Meitinger, T. ; Metspalu, A.* ; Mihailov, E.* ; Milani, L.* ; Missmer, S.A.* ; Mitchell, P.* ; Mollegaard, S.* ; Mook-Kanamori, D.O.* ; Morgan, A.* ; van der Most, P.J.* ; de Mutsert, R.* ; Nauck, M.* ; Nolte, I.M.* ; Noordam, R.* ; Penninx, B.W.J.H.* ; Peters, A. ; Peyser, P.A.* ; Polasek, O.* ; Power, C.* ; Pribisalic, A.* ; Redmond, P.* ; Rich-Edwards, J.W.* ; Ridker, P.M.* ; Rietveld, C.A.* ; Ring, S.M.* ; Rose, L.M.* ; Rueedi, R.* ; Shukla, V.* ; Smith, J.A.* ; Stankovic, S.* ; Stefansson, K.* ; Stöckl, D. ; Strauch, K. ; Swertz, M.A.* ; Teumer, A.* ; Thorleifsson, G.* ; Thorsteinsdottir, U.* ; Thurik, A.R.* ; Timpson, N.J.* ; Turman, C.* ; Uitterlinden, A.G.* ; Waldenberger, M. ; Wareham, N.J.* ; Weir, D.R.* ; Willemsen, G.* ; Zhao, J.H.* ; Zhao, W.N.* ; Zhao, Y.* ; Snieder, H.* ; den Hoed, M.* ; Ong, K.K.* ; Mills, M.C.* ; Perry, J.R.B.*

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

Nat. Hum. Behav. 7, 790-801 (2023)
Postprint DOI PMC
Open Access Green
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 under present-day natural selection. Integration with data from historical selection scans highlighted an allele in the FADS1/2 gene locus that has been under selection for thousands of years and remains so today. Collectively, our findings demonstrate that a broad range of biological mechanisms contribute to reproductive success. Mathieson et al. carried out a genome-wide association study of reproductive success (number of children born) in humans, revealing the importance of diverse neuro-endocrine and behavioural factors.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Term Balancing Selection; Quality-control; Association; Variants; Gwas; Heritability; Metaanalysis; Adaptation; Signatures; Eqtl
Language english
Publication Year 2023
HGF-reported in Year 2023
ISSN (print) / ISBN 2397-3374
e-ISSN 2397-3374
Journal Nature human behaviour
Quellenangaben Volume: 7, Issue: 5, Pages: 790-801 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Heidelberger Platz 3, Berlin, 14197, Germany
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504091-004
G-504091-001
G-500700-001
G-504000-010
G-504100-001
Grants ESRC
LabEx Ecodec ANR
Leverhulme Centre for Demographic Science
Leverhulme Trust
DOI 10.1038/s41562-023-01528-6
WOS ID 000955741600006
PubMed ID 36864135
Erfassungsdatum 2024-01-08
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