{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360011146340637568.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1016/j.wem.2015.01.002"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S1080603215000058?httpAccept=text/xml"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S1080603215000058?httpAccept=text/plain"}},{"identifier":{"@type":"URI","@value":"https://journals.sagepub.com/doi/pdf/10.1016/j.wem.2015.01.002"}},{"identifier":{"@type":"URI","@value":"https://journals.sagepub.com/doi/full-xml/10.1016/j.wem.2015.01.002"}}],"dc:title":[{"@value":"<i>EPAS1</i> Gene Polymorphisms Are Associated With High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:sec><jats:title>Objective</jats:title><jats:p> To test the hypothesis that the polymorphisms in the EPAS1 gene are associated with the susceptibility to high altitude polycythemia (HAPC) in Tibetans at the Qinghai-Tibetan Plateau. </jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p> We enrolled 63 Tibetan HAPC patients and 131 matched healthy Tibetans as a control group, from the Yushu area in Qinghai where the altitude is greater than 3500 m. Eight single-nucleotide polymorphisms (SNPs) of the EPAS1 gene, including rs12619696, rs13420857, rs2881504, rs4953388, rs13419896, rs4953354, rs10187368, and rs7587138, were genotyped by the Sequenom MassARRAY SNP assay. </jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p> The frequencies of the G allele of EPAS1 SNP rs13419896 were significantly higher in the HAPC group than in the control group ( P < .05). Moreover, the A alleles of rs12619696 and rs4953354 were prevalent in the HAPC group, and their counterpart homozygotes were prevalent in the normal Tibetan group ( P < .05). </jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p> Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354. </jats:p></jats:sec>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380011146340637571","@type":"Researcher","foaf:name":[{"@value":"Jin Xu"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"},{"@value":"Department of Clinical Medicine, Qinghai University School of Medicine, Qinghai, China (Dr Xu)"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146340637569","@type":"Researcher","foaf:name":[{"@value":"Ying-Zhong Yang"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146340637570","@type":"Researcher","foaf:name":[{"@value":"Feng Tang"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146340637572","@type":"Researcher","foaf:name":[{"@value":"Qin Ga"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146340637573","@type":"Researcher","foaf:name":[{"@value":"Wuren Tana"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146340637568","@type":"Researcher","foaf:name":[{"@value":"Ri-Li Ge"}],"jpcoar:affiliationName":[{"@value":"Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge)"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"10806032"},{"@type":"EISSN","@value":"15451534"}],"prism:publicationName":[{"@value":"Wilderness & Environmental Medicine"}],"dc:publisher":[{"@value":"SAGE Publications"}],"prism:publicationDate":"2015-09","prism:volume":"26","prism:number":"3","prism:startingPage":"288","prism:endingPage":"294"},"reviewed":"false","dc:rights":["https://journals.sagepub.com/page/policies/text-and-data-mining-license"],"url":[{"@id":"https://api.elsevier.com/content/article/PII:S1080603215000058?httpAccept=text/xml"},{"@id":"https://api.elsevier.com/content/article/PII:S1080603215000058?httpAccept=text/plain"},{"@id":"https://journals.sagepub.com/doi/pdf/10.1016/j.wem.2015.01.002"},{"@id":"https://journals.sagepub.com/doi/full-xml/10.1016/j.wem.2015.01.002"}],"createdAt":"2015-03-16","modifiedAt":"2025-03-11","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050020552344491136","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Sex differences in genotype frequency and the risk of polycythemia associated with rs13419896 and rs2790859 among Tibetan highlanders living in Tsarang, Mustang, Nepal"}]},{"@id":"https://cir.nii.ac.jp/crid/1050287142183370496","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Unique hemoglobin dynamics in female Tibetan highlanders"}]},{"@id":"https://cir.nii.ac.jp/crid/1360853567725382400","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Transcriptomic Changes in Young Japanese Males After Exposure to Acute Hypobaric Hypoxia"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1016/j.wem.2015.01.002"},{"@type":"CROSSREF","@value":"10.1186/s41182-020-00289-6_references_DOI_UZijoY7VYfov2h19g0TvYsm83kh"},{"@type":"CROSSREF","@value":"10.3389/fgene.2020.559074_references_DOI_UZijoY7VYfov2h19g0TvYsm83kh"},{"@type":"CROSSREF","@value":"10.1186/s40101-024-00372-5_references_DOI_UZijoY7VYfov2h19g0TvYsm83kh"}]}