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dc.contributor.authorClark, D.W.
dc.contributor.authorOkada, Y.
dc.contributor.authorMoore, K.H.S.
dc.contributor.authorMason, D.
dc.contributor.authorPirastu, N.
dc.contributor.authorGandin, I.
dc.contributor.authorMattsson, H.
dc.contributor.authorBarnes, C.L.K.
dc.contributor.authorLin, K.
dc.contributor.authorZhao, J.H.
dc.contributor.authorDeelen, P.
dc.contributor.authorRohde, R.
dc.contributor.authorSchurmann, C.
dc.contributor.authorGuo, X.
dc.contributor.authorGiulianini, F.
dc.contributor.authorZhang, W.
dc.contributor.authorMedina-Gomez, C.
dc.contributor.authorKarlsson, R.
dc.contributor.authorBao, Y.
dc.contributor.authorBartz, T.M.
dc.contributor.authorBaumbach, C.
dc.contributor.authorBiino, G.
dc.contributor.authorBixley, M.J.
dc.contributor.authorBrumat, M.
dc.contributor.authorChai, J.F.
dc.contributor.authorCorre, T.
dc.contributor.authorCousminer, D.L.
dc.contributor.authorDekker, A.M.
dc.contributor.authorEccles, D.A.
dc.contributor.authorvan Eijk, K.R.
dc.contributor.authorFuchsberger, C.
dc.contributor.authorGao, H.
dc.contributor.authorGermain, M.
dc.contributor.authorGordon, S.D.
dc.contributor.authorde Haan, H.G.
dc.contributor.authorHarris, S.E.
dc.contributor.authorHofer, E.
dc.contributor.authorHuerta-Chagoya, A.
dc.contributor.authorIgartua, C.
dc.contributor.authorJansen, I.E.
dc.contributor.authorJia, Y.
dc.contributor.authorKacprowski, T.
dc.contributor.authorKarlsson, T.
dc.contributor.authorKleber, M.E.
dc.contributor.authorLi, S.A.
dc.contributor.authorLi-Gao, R.
dc.contributor.authorMahajan, A.
dc.contributor.authorMatsuda, K.
dc.contributor.authorMeidtner, K.
dc.contributor.authorMeng, W.
dc.contributor.authorMontasser, M.E.
dc.contributor.authorvan der Most, P.J.
dc.contributor.authorMunz, M.
dc.contributor.authorNutile, T.
dc.contributor.authorPalviainen, T.
dc.contributor.authorPrasad, G.
dc.contributor.authorPrasad, R.B.
dc.contributor.authorPriyanka, T.D.S.
dc.contributor.authorRizzi, F.
dc.contributor.authorSalvi, E.
dc.contributor.authorSapkota, B.R.
dc.contributor.authorShriner, D.
dc.contributor.authorSkotte, L.
dc.contributor.authorSmart, M.C.
dc.contributor.authorSmith, A.V.
dc.contributor.authorvan der Spek, A.
dc.contributor.authorSpracklen, C.N.
dc.contributor.authorStrawbridge, R.J.
dc.contributor.authorTajuddin, S.M.
dc.contributor.authorTrompet, S.
dc.contributor.authorTurman, C.
dc.contributor.authorVerweij, N.
dc.contributor.authorViberti, C.
dc.contributor.authorWang, L.
dc.contributor.authorWarren, H.R.
dc.contributor.authorWootton, R.E.
dc.contributor.authorYanek, L.R.
dc.contributor.authorYao, J.
dc.contributor.authorYousri, N.A.
dc.contributor.authorZhao, W.
dc.contributor.authorAdeyemo, A.A.
dc.contributor.authorAfaq, S.
dc.contributor.authorAguilar-Salinas, C.A.
dc.contributor.authorAkiyama, M.
dc.contributor.authorAlbert, M.L.
dc.contributor.authorAllison, M.A.
dc.contributor.authorAlver, M.
dc.contributor.authorAung, T.
dc.contributor.authorAzizi, F.
dc.contributor.authorBentley, A.R.
dc.contributor.authorBoeing, H.
dc.contributor.authorBoerwinkle, E.
dc.contributor.authorBorja, J.B.
dc.contributor.authorde Borst, G.J.
dc.contributor.authorBottinger, E.P.
dc.contributor.authorBroer, L.
dc.contributor.authorCampbell, H.
dc.contributor.authorChanock, S.
dc.contributor.authorChee, M.L.
dc.contributor.authorChen, G.
dc.date.accessioned2020-07-10T02:17:48Z
dc.date.available2020-07-10T02:17:48Z
dc.date.issued2019
dc.identifier.citationClark, D.W. and Okada, Y. and Moore, K.H.S. and Mason, D. and Pirastu, N. and Gandin, I. and Mattsson, H. et al. 2019. Associations of autozygosity with a broad range of human phenotypes. Nature Communications. 10 (1): Article No. 4957.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/79988
dc.identifier.doi10.1038/s41467-019-12283-6
dc.description.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.

dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectScience & Technology
dc.subjectMultidisciplinary Sciences
dc.subjectScience & Technology - Other Topics
dc.subjectINBREEDING DEPRESSION
dc.subjectHOMOZYGOSITY
dc.subjectFERTILITY
dc.subjectLOCI
dc.subjectRUNS
dc.subjectQUANTIFICATION
dc.titleAssociations of autozygosity with a broad range of human phenotypes
dc.typeJournal Article
dcterms.source.volume10
dcterms.source.number1
dcterms.source.issn2041-1723
dcterms.source.titleNature Communications
dc.date.updated2020-07-10T02:17:42Z
curtin.note

© 2019 Authors. Published in Nature Communnications.

curtin.accessStatusOpen access
curtin.contributor.orcidStraker, Leon [0000-0002-7786-4128]
curtin.identifier.article-numberARTN 4957
dcterms.source.eissn2041-1723
curtin.contributor.scopusauthoridStraker, Leon [57210379749] [7004594392]


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