Associations of autozygosity with a broad range of human phenotypes
Clark, David W.; Okada, Yukinori; Moore, Kristjan H. S.; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L. 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F.; Doerr, Marcus; Doumatey, Ayo P.; Dzimiri, Nduna; Ebenesersdottir, S. Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F.; Fischer, Krista; Freedman, Barry I.; Girotto, Giorgia; Goel, Anuj; Gogele, Martin; Goodarzi, Mark O.; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel F.; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P.; Haiman, Christopher A.; Halevy, Avner; Harris, Tamara B.; Hedayati, Mehdi; van Heel, David A.; Hirata, Makoto; Hofer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi-Jen; Ikram, M. Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D.; Kessler, Thorsten; Khaw, Kay-Tee; Khor, Chiea Chuen; de Kleijn, Dominique P. 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C.; Porteous, David J.; Posthuma, Danielle; Psaty, Bruce M.; Rioux, John D.; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I.; Rudan, Igor; Den Ruijter, Hester M.; Sanghera, Dharambir K.; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B.; Schunkert, Heribert; Scott, Robert A.; Shuldiner, Alan R.; Sim, Xueling; Small, Neil; Smith, Jennifer A.; Sotoodehnia, Nona; Tai, E-Shyong; Teumer, Alexander; Timpson, Nicholas J.; Toniolo, Daniela; Tregouet, David-Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A.; Weir, David R.; Whitfield, John B.; Wijmenga, Cisca; Wong, Tien-Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S.; Zonderman, Alan B.; Perola, Markus; Magnusson, Patrik K. E.; Uitterlinden, Andre G.; Kooner, Jaspal S.; Chasman, Daniel I.; Loos, Ruth J. F.; Franceschini, Nora; Franke, Lude; Haley, Chris S.; Hayward, Caroline; Walters, Robin G.; Perry, John R. B.; Esko, Tonu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K.; Kubo, Michiaki; Wilson, James F. (2019-10-31)
Springer Nature
31.10.2019
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
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© The Author(s) 2019. 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/.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2019. 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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Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi-fe2020042822782
https://urn.fi/URN:NBN:fi-fe2020042822782
Tiivistelmä
Abstract
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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