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Associations of autozygosity with a broad range of human phenotypes

Associations of autozygosity with a broad range of human phenotypes

Titill: Associations of autozygosity with a broad range of human phenotypes
Höfundur: Clark, David W
Okada, Yukinori
Moore, Kristjan H S
Mason, Dan
Pirastu, Nicola
Gandin, Ilaria
Mattsson, Hannele
Barnes, Catriona L K
Lin, Kuang
Zhao, Jing Hua
... 426 fleiri höfundar Sýna alla höfunda
Útgáfa: 2019-10-31
Tungumál: Enska
Umfang: 4957
Háskóli/Stofnun: Háskóli Íslands
University of Iceland
Svið: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
School of Engineering and Natural Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
Félagsvísindasvið (HÍ)
School of Social Sciences (UI)
Deild: Læknadeild (HÍ)
Faculty of Medicine (UI)
Félagsfræði-, mannfræði- og þjóðfræðideild (HÍ)
Faculty of Sociology, Anthropology and Folkloristics (UI)
Birtist í: Nature Communications;10(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-019-12283-6
Efnisorð: Consanguinity; Genetic association study; Genetic markers; Inbreeding; Skyldleikarækt; Blóðsifjar; Erfðarannsóknir
URI: https://hdl.handle.net/20.500.11815/1529

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Tilvitnun:

Clark, D.W., Okada, Y., Moore, K.H.S. et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun 10, 4957 (2019). https://doi.org/10.1038/s41467-019-12283-6

Útdráttur:

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 (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.

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Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/.

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