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

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Barban, N 
Jansen, R 
de Vlaming, R 
Vaez, A 
Mandemakers, JJ 

Abstract

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.

Description

Keywords

Birth Order, Female, Fertility, Genome-Wide Association Study, Humans, Maternal Age, Parity, Phenotype, Polymorphism, Single Nucleotide, Pregnancy, Quantitative Trait Loci, Reproduction, Reproductive Behavior

Journal Title

Nat Genet

Conference Name

Journal ISSN

1061-4036
1546-1718

Volume Title

Publisher

Nature Publishing Group
Sponsorship
Medical Research Council (MC_UU_12015/2)
MRC (MC_PC_13048)
Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0512-10135)
Medical Research Council (MC_UU_12015/1)
Medical Research Council (MC_U106179471)
Medical Research Council (MC_U106179472)
Medical Research Council (MC_PC_13048)