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Associations of autozygosity with a broad range of human phenotypes
Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0001-8095-6149
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Molecular Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Karolinska Inst, Ctr Mol Med, Dept Med Solna, Cardiovasc Med Unit, Stockholm, Sweden.ORCID iD: 0000-0002-4360-8003
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.ORCID iD: 0000-0002-6316-3355
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Number of Authors: 4362019 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 10, article id 4957Article in journal (Refereed) Published
Abstract [en]

In 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 (F-ROH) for >1.4 million individuals, we show that F-ROH 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: F-ROH 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 F-ROH are confirmed within full-sibling pairs, where the variation in F-ROH is independent of all environmental confounding.

Place, publisher, year, edition, pages
2019. Vol. 10, article id 4957
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Medical Genetics
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URN: urn:nbn:se:uu:diva-397418DOI: 10.1038/s41467-019-12283-6ISI: 000493438700005PubMedID: 31673082OAI: oai:DiVA.org:uu-397418DiVA, id: diva2:1371639
Note

For complete list of authors see http://dx.doi.org/10.1038/s41467-019-12283-6

Available from: 2019-11-20 Created: 2019-11-20 Last updated: 2019-11-20Bibliographically approved

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