Universidad Peruana Cayetano Heredia

Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans

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dc.contributor.author Heinrich, E.C.
dc.contributor.author Wu, L.
dc.contributor.author Lawrence, E.S.
dc.contributor.author Cole, A.M.
dc.contributor.author Anza-Ramirez, C.
dc.contributor.author Villafuerte, Francisco C.
dc.contributor.author Simonson, T.S.
dc.date.accessioned 2019-07-04T16:59:37Z
dc.date.available 2019-07-04T16:59:37Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/6807
dc.description.abstract EGLN1 encodes the hypoxia-inducible factor (HIF) pathway prolyl hydroxylase 2 (PHD2) that serves as an oxygen-sensitive regulator of HIF activity. The EGLN1 locus exhibits a signature of positive selection in Tibetan and Andean populations and is associated with hemoglobin concentration in Tibetans. Recent reports provide evidence for functional roles of protein-coding variants within the first exon of EGLN1 (rs186996510, rs12097901) that are linked to an adaptive signal in Tibetans, yet whether these same variants are present and contribute to adaptation in Andean highlanders is unknown. We determined the frequencies of these adaptive Tibetan alleles in Quechua Andeans resident at high altitude (4,350 m) in addition to individuals of Nepali ancestry resident at sea level. The rs186996510 C (minor) allele previously found at high frequency in Tibetans is absent in Andean (G: 100%) and rare among Nepali (C: 11.8%, G: 88.2%) cohorts. The minor G allele of rs12097901 is found at similarly low frequencies in Andeans (G: 12.7%, C: 87.3%) and Nepalis (G: 23.5%, C: 76.5%) compared to Tibetans. These results suggest that adaptation involving EGLN1 in Andeans involves different mechanisms than those described in Tibetans. The precise Andean adaptive variants remain to be determined. en_US
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartofseries Annals of Human Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject adult en_US
dc.subject aged en_US
dc.subject allele en_US
dc.subject altitude en_US
dc.subject ancestry group en_US
dc.subject Andean en_US
dc.subject Article en_US
dc.subject comparative study en_US
dc.subject controlled study en_US
dc.subject EGLN1 en_US
dc.subject egln1 protein en_US
dc.subject female en_US
dc.subject gene frequency en_US
dc.subject gene locus en_US
dc.subject genetic analysis en_US
dc.subject genetic association en_US
dc.subject genetic variability en_US
dc.subject genomic DNA en_US
dc.subject genotype en_US
dc.subject habitual adaptation en_US
dc.subject high altitude en_US
dc.subject human en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject population en_US
dc.subject priority journal en_US
dc.subject protein en_US
dc.subject rs12097901 en_US
dc.subject rs186996510 en_US
dc.subject sea level en_US
dc.subject single nucleotide polymorphism en_US
dc.subject Tibetan en_US
dc.subject Tibetan (people) en_US
dc.subject unclassified drug en_US
dc.title Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1111/ahg.12299
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1469-1809


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