Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Nat Genet. 2016 Dec;48(12):1462-1472. doi: 10.1038/ng.3698. Epub 2016 Oct 31.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, N.I.H., Extramural

MeSH terms

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