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LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure

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dc.contributor.author Childebayeva, Ainash
dc.contributor.author Jones, Tamara R.
dc.contributor.author Goodrich, Jaclyn M.
dc.contributor.author Leon-Velarde, Fabiola
dc.contributor.author Rivera-Chira, Maria
dc.contributor.author Kiyamu, Melisa
dc.contributor.author Brutsaert, Tom D.
dc.contributor.author Dolinoy, Dana C.
dc.contributor.author Bigham, Abigail W.
dc.date.accessioned 2019-12-06T20:57:46Z
dc.date.available 2019-12-06T20:57:46Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/7402
dc.description.abstract Recent discoveries indicate a genetic basis for high-altitude adaptation among human groups who have resided at high altitude for millennia, including Andeans, Tibetans, and Ethiopians. Yet, genetics alone does not explain the extent of variation in altitude-adaptive phenotypes. Current and past environments may also play a role, and one way to determine the effect of the environment is through the epigenome. To characterize if Andean adaptive responses to high altitude have an epigenetic component, we analyzed DNA methylation of the promoter region of EPAS1 and LINE-1 repetitive element among 572 Quechua individuals from high- (4,388 m) and low-altitude (0 m) in Peru. Participants recruited at high altitude had lower EPAS1 DNA methylation and higher LINE-1 methylation. Altitude of birth was associated with higher LINE-1 methylation, not with EPAS1 methylation. The number of years lived at high altitude was negatively associated with EPAS1 methylation and positively associated with LINE-1 methylation. We found four one-carbon metabolism SNPs (MTHFD1 rs2236225, TYMS rs502396, FOLH1 rs202676, GLDC rs10975681) that cumulatively explained 11.29% of the variation in average LINE-1 methylation. And identified an association between LINE-1 methylation and genome-wide SNP principal component 1 that distinguishes European from Indigenous American ancestry suggesting that European admixture decreases LINE-1 methylation. Our results indicate that both current and lifetime exposure to high-altitude hypoxia have an effect on EPAS1 and LINE-1 methylation among Andean Quechua, suggesting that epigenetic modifications may play a role in high-altitude adaptation. en_US
dc.language.iso eng
dc.publisher Taylor & Francis
dc.relation.ispartof urn:issn:1559-2308
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject adaptation en_US
dc.subject Adaptation, Physiological en_US
dc.subject adolescent en_US
dc.subject Adolescent en_US
dc.subject adult en_US
dc.subject Adult en_US
dc.subject altitude en_US
dc.subject Altitude en_US
dc.subject altitude acclimatization en_US
dc.subject altitude disease en_US
dc.subject Altitude Sickness en_US
dc.subject Andes en_US
dc.subject Article en_US
dc.subject basic helix loop helix transcription factor en_US
dc.subject Basic Helix-Loop-Helix Transcription Factors en_US
dc.subject biosynthesis en_US
dc.subject carbon metabolism en_US
dc.subject cohort analysis en_US
dc.subject CpG island en_US
dc.subject cross-sectional study en_US
dc.subject DNA extraction en_US
dc.subject DNA methylation en_US
dc.subject DNA Methylation en_US
dc.subject DNA modification en_US
dc.subject endothelial PAS domain-containing protein 1 en_US
dc.subject EPAS1 gene en_US
dc.subject Epigenesis, Genetic en_US
dc.subject epigenetics en_US
dc.subject Epigenetics en_US
dc.subject ethnology en_US
dc.subject female en_US
dc.subject Female en_US
dc.subject gene en_US
dc.subject gene expression en_US
dc.subject genetic epigenesis en_US
dc.subject genetic variability en_US
dc.subject genetics en_US
dc.subject genotype en_US
dc.subject human en_US
dc.subject Humans en_US
dc.subject hypoxia en_US
dc.subject lifespan en_US
dc.subject LINE 1 gene en_US
dc.subject Long Interspersed Nucleotide Elements en_US
dc.subject long interspersed repeat en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject Male en_US
dc.subject methylation en_US
dc.subject oxidative stress en_US
dc.subject phenotype en_US
dc.subject Polymorphism, Single Nucleotide en_US
dc.subject promoter region en_US
dc.subject pyrosequencing en_US
dc.subject questionnaire en_US
dc.subject s adenosylmethionine en_US
dc.subject single nucleotide polymorphism en_US
dc.title LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1080/15592294.2018.1561117
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03


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