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Genes regulated by vitamin D in bone cells are positively selected in East Asians

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dc.contributor.author Arciero, Elena
dc.contributor.author Biagini, Simone Andrea, 1983-
dc.contributor.author Chen, Yuan
dc.contributor.author Xue, Yali
dc.contributor.author Luiselli, Donata
dc.contributor.author Tyler-Smith, Chris
dc.contributor.author Pagani, Luca
dc.contributor.author Ayub, Qasim
dc.date.accessioned 2023-06-26T06:02:36Z
dc.date.available 2023-06-26T06:02:36Z
dc.date.issued 2015
dc.identifier.citation Arciero E, Biagini SA, Chen Y, Xue Y, Luiselli D, Tyler-Smith C, et al. Genes regulated by vitamin D in bone cells are positively selected in East Asians. PLoS ONE. 2015 Dec 31;10(12):e0146072. DOI: 10.1371/journal.pone.0146072
dc.identifier.issn 1932-6203
dc.identifier.uri http://hdl.handle.net/10230/57331
dc.description.abstract Vitamin D and folate are activated and degraded by sunlight, respectively, and the physiological processes they control are likely to have been targets of selection as humans expanded from Africa into Eurasia. We investigated signals of positive selection in gene sets involved in the metabolism, regulation and action of these two vitamins in worldwide populations sequenced by Phase I of the 1000 Genomes Project. Comparing allele frequency-spectrum-based summary statistics between these gene sets and matched control genes, we observed a selection signal specific to East Asians for a gene set associated with vitamin D action in bones. The selection signal was mainly driven by three genes CXXC finger protein 1 (CXXC1), low density lipoprotein receptor-related protein 5 (LRP5) and runt-related transcription factor 2 (RUNX2). Examination of population differentiation and haplotypes allowed us to identify several candidate causal regulatory variants in each gene. Four of these candidate variants (one each in CXXC1 and RUNX2 and two in LRP5) had a >70% derived allele frequency in East Asians, but were present at lower (20–60%) frequency in Europeans as well, suggesting that the adaptation might have been part of a common response to climatic and dietary changes as humans expanded out of Africa, with implications for their role in vitamin D-dependent bone mineralization and osteoporosis insurgence. We also observed haplotype sharing between East Asians, Finns and an extinct archaic human (Denisovan) sample at the CXXC1 locus, which is best explained by incomplete lineage sorting.
dc.description.sponsorship This work was supported by The Wellcome Trust (098051). EA was supported by the Erasmus Lifelong Learning Programme (LLP). LP was supported by the ERC Starting Investigator grant FP7 – 261213. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Public Library of Science (PLoS)
dc.relation.ispartof PLoS ONE. 2015 Dec 31;10(12):e0146072
dc.rights © 2015 Arciero et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Vitamina D
dc.subject.other Europa
dc.subject.other Vitamines
dc.subject.other Cèl·lules òssies
dc.title Genes regulated by vitamin D in bone cells are positively selected in East Asians
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0146072
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/261213
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/098051
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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