Genetic variants at the EGLN1 locus associated with high‐altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans
| العنوان: | 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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| المؤلفون: | Elijah S. Lawrence, Tatum S. Simonson, Francisco C. Villafuerte, Cecilia Anza-Ramirez, Erica C. Heinrich, Amy M. Cole, Lu Wu |
| المصدر: | Ann Hum Genet Annals of human genetics, vol 83, iss 3 |
| بيانات النشر: | Wiley, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, genomic DNA, genetic association, genotype, population, genetic analysis, Tibet, Gene Frequency, single nucleotide polymorphism, genetic variability, Peru, Genotype, comparative study, Genetics (clinical), Genetics & Heredity, Genetics, 0303 health sciences, education.field_of_study, adult, Altitude, 030305 genetics & heredity, allele, Single Nucleotide, Hematology, Exons, Middle Aged, Adaptation, Physiological, unclassified drug, aged, female, priority journal, ancestry group, Female, altitude, Tibetan, egln1 protein, Adult, gene locus, Physiological, 1.1 Normal biological development and functioning, Clinical Sciences, Population, Single-nucleotide polymorphism, Locus (genetics), gene frequency, sea level, Biology, Polymorphism, Single Nucleotide, Article, Hypoxia-Inducible Factor-Proline Dioxygenases, Young Adult, 03 medical and health sciences, male, Nepal, Underpinning research, habitual adaptation, high altitude, Humans, controlled study, human, Genetic variability, Adaptation, Polymorphism, rs186996510, Allele, education, Allele frequency, Alleles, Aged, 030304 developmental biology, major clinical study, purl.org/pe-repo/ocde/ford#3.01.02 [https], Tibetan (people), rs12097901, biology.protein, Andean, protein, EGLN1 |
| الوصف: | 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 (4,350m) 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. |
| وصف الملف: | application/pdf |
| تدمد: | 1469-1809 0003-4800 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf7679ad57e3eb8c215835a11b573c3 https://doi.org/10.1111/ahg.12299 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....0cf7679ad57e3eb8c215835a11b573c3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14691809 00034800 |
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