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

Year of Publication
2016
Author
Journal
Nat Genet
Volume
48
Issue
12
Number of Pages
1462-1472
ISSN Number
1546-1718
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.

Date Published
2016 Dec
DOI
10.1038/ng.3698
Alternate Journal
Nat. Genet.
PMID
27798627
PMCID
PMC5695684
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