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Nature Research, Nature Genetics, 12(48), p. 1462-1472

DOI: 10.1038/ng.3698



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Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Journal article published in 2016 by Ronald de Vlaming, Sander W. van der Laan, Peter J. van der Most, Cornelia M. van Duijn, Eco J. C. de Geus, Hugoline G. de Haan, Renee de Mutsert, Marcel den Hoed, Nicola Barban ORCID, Rick Jansen ORCID, Ahmad Vaez ORCID, R. De Vlaming, Jornt Jj Mandemakers, Felix C. Tropf, Xia Shen and other authors.
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This paper is available in a repository.

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The genetic architecture of human reproductive behavior[mdash]age at first birth (AFB) and number of children ever born (NEB)[mdash]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.