ArticleAnnals of human genetics2019
Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans.
Article in Annals of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Prevalence of metabolic syndrome and its components according to altitude levels: a systematic review and meta-analysis.Scientific reports · 2024Pooled it
- Genomic Evidence for Natural Selection Underlying High-Altitude Adaptive Hemoglobin Levels Among Peruvian Andeans.Genome biology and evolution · 2026Article
- Comparative and population genomics analyses of eared pheasants inhabiting highly varying altitudes.BMC genomics · 2026Article
- Highland environment and genetic background are associated with myopia risk in Tibetans and Hans.Eye (London, England) · 2026Article
- Signatures of high-altitude adaptation in Caucasus populations: evidence from the EGLN1-SPRTN locus.Genetica · 2026Article
- DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases.Human genomics · 2025Review
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- MYLIP attenuates hypoxia tolerance by inducing K27-linked polyubiquitination and subsequent proteasomal degradation of HIF-α.Communications biology · 2025Article
- Generation of Phd2-haplodeficient macrophages with proresolution effects for the treatment of limb ischemia.Frontiers in pharmacology · 2025Article
- Higher oxygen content and transport characterize high-altitude ethnic Tibetan women with the highest lifetime reproductive success.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Hypoxia-induced signaling in the cardiovascular system: pathogenesis and therapeutic targets.Signal transduction and targeted therapy · 2023Review
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- High-Altitude Erythrocytosis: Mechanisms of Adaptive and Maladaptive Responses.Physiology (Bethesda, Md.) · 2022Review
- Protective Effects from the Ischemic/Hypoxic Stress Induced by Labor in the High-Altitude Tibetan Placenta.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Comparative Transcriptome Analysis of Gayal (Frontiers in genetics · 2021Article
- Impacts of Changes in Atmospheric OFrontiers in physiology · 2021Review
- Increased hypoxic proliferative response and gene expression in erythroid progenitor cells of Andean highlanders with chronic mountain sickness.American journal of physiology. Regulatory, integrative and comparative physiology · 2020Article
- Effect ofBioMed research international · 2020Article
- Cross-Species Insights Into Genomic Adaptations to Hypoxia.Frontiers in genetics · 2020Review
- Seq-ing Higher Ground: Functional Investigation of Adaptive Variation Associated With High-Altitude Adaptation.Frontiers in genetics · 2020Article
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Authors and funding
7 authors at 4 institutions in 3 countries.
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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.
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