Genome-wide analysis identifies 12 loci influencing human reproductive behavior
2016 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 12, 1462-1472 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2016. Vol. 48, no 12, 1462-1472 p.
IdentifiersURN: urn:nbn:se:uu:diva-311496DOI: 10.1038/ng.3698ISI: 000389011100006PubMedID: 27798627OAI: oai:DiVA.org:uu-311496DiVA: diva2:1060470
FunderEU, European Research Council, 615603 320116 647648 EdGeWellcome trustSwedish Research Council, 2015-03657 421-2013-1061 537-2014-371Swedish Heart Lung Foundation, 20140543Ragnar Söderbergs stiftelseNIH (National Institute of Health), P01-AG005842 P01-AG005842-20S2 P30-AG012810 T32-AG000186-23 R01-AG042568-02