An international team of researchers who identified genetic variants associated with reproductive success say their findings could highlight mechanisms underlying fertility and infertility. In addition, their analyses detected genetic alleles under present-day selection, providing an insight into the nature of ongoing natural selection in humans. Iain Mathieson, PhD, a population geneticist at the University of Pennsylvania, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. The title of his presentation was “Genome-Wide Analysis Identifies Genetic Effects on Reproductive Success and Ongoing Natural Selection at the FADS Locus,” and was delivered in the ASHG’s Thursday morning session “Natural Selection on Polygenic Traits and Omics.” “This study is of interest in relation to our findings on reproductive biology and potential links to infertility,” says co-author of the study Melinda Mills, PhD, Director of the Leverhulme Centre for Demographic Science at the University of Oxford (UK). “But it also empirically tests one of the most gripping and fundamental questions asked by scientists across many disciplines and decades: Is there evidence of ongoing natural selection in humans and, if so, what is it and how does it operate?” The new study builds upon previous research on the genetic bases of reproductive behavior (timing and number of children) and reproductive development to identify individual genetic determinants of number of children ever born or childlessness. The researchers performed genome-wide association studies (GWAS) in up to 785,604 individuals of European ancestry and identified 43 genetic loci associated with either number of children ever born or childlessness.
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