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.

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Journal Nature Genetics
Grant This work was funded by the European Commission 7th Framework Programme; grant id fp7/320116 - Changing families and sustainable societies: Policy contexts and diversity over the life course and across generations (FAMILIESANDSOCIETIES)
Barban, N. (Nicola), Jansen, R, de Vlaming, R, Vaez, A, Mandemakers, J.J, Tropf, F.C. (Felix C.), … Mills, M.C. (Melinda C.). (2016). Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nature Genetics, 48(12), 1462–1472. doi:10.1038/ng.3698