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dc.contributor.authorMontasser, M.E.
dc.contributor.authorShuldiner, A.R.
dc.contributor.authorO'connell, J.R
dc.date.accessioned2019-11-12T20:30:56Z
dc.date.available2019-11-12T20:30:56Z
dc.date.issued2019
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85074297784&doi=10.1038%2fs41467-019-12283-6&partnerID=40&md5=df867c56b6493d4b65013367af564a09
dc.identifier.urihttp://hdl.handle.net/10713/11405
dc.description.abstractIn many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding. Copyright 2019, The Author(s).en_US
dc.description.sponsorshipen_US
dc.description.urihttps://doi.org/10.1038/s41467-019-12283-6en_US
dc.language.isoen_USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofNature Communications
dc.subject.meshConsanguinityen_US
dc.subject.meshInbreedingen_US
dc.subject.meshGenetic Association Studiesen_US
dc.subject.meshGenetic Markersen_US
dc.titleAssociations of autozygosity with a broad range of human phenotypesen_US
dc.typeArticleen_US
dc.identifier.doi10.1038/s41467-019-12283-6
dc.identifier.pmid31673082


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