ArticleScientific reports2017
Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Molecular mechanisms of EPAS1 in regulating pulmonary vascular remodeling in COPD: a review.Molecular biology reports · 2026Review
- Advancing high-altitude medicine: a model for the future.Signal transduction and targeted therapy · 2026Review
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Genetic adaptations shaping survival, pregnancy, and life at high altitude and sea level.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.Cancer discovery · 2025Article
- Life destiny of erythrocyte in high altitude erythrocytosis: mechanisms underlying the progression from physiological (moderate) to pathological (excessive) high-altitude erythrocytosis.Frontiers in genetics · 2025Review
- The extracellular CIRP as a predictive marker for the endothelial dysfunction in chronic obstructive pulmonary disease combined with pulmonary hypertension.BMC pulmonary medicine · 2024Article
- Influence of Hypoxia on the Airway Epithelium.Physiological research · 2024Review
- Evolution of Key Oxygen-Sensing Genes Is Associated with Hypoxia Tolerance in Fishes.Genome biology and evolution · 2024Article
- Selection scan in Native Americans of Mexico identifiesHeliyon · 2024Article
- FunctionalScience advances · 2024Article
- Hypoxia Inducible Factor pathway proteins in high-altitude mammals.Trends in biochemical sciences · 2024Review
- Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.Frontiers in genetics · 2024Review
- Hypoxia-induced signaling in the cardiovascular system: pathogenesis and therapeutic targets.Signal transduction and targeted therapy · 2023Review
- Genomic Variation, Population History, and Long-Term Genetic Adaptation to High Altitudes in Tibetan Partridge (Perdix hodgsoniae).Molecular biology and evolution · 2023Article
- A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.Science advances · 2023Article
- High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele.Molecular biology and evolution · 2023Article
- The genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America.Genetics · 2022Article
- GPR126 regulates colorectal cancer cell proliferation by mediating HDAC2 and GLI2 expression.Cancer science · 2021Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them to 16 Native American lowlanders. We developed a new statistical procedure using a combination of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect beneficial alleles that arose since the settlement of the Andes and are currently present in 15-50% of the population. We identified two missense variants as significant targets of selection. One of these variants, located within the GPR126 gene, has been previously associated with the forced expiratory volume/forced vital capacity ratio. The other novel missense variant mapped to the EPAS1 gene encoding the hypoxia inducible factor 2α. EPAS1 is known to be the major selection candidate gene in Tibetans. The derived allele of GPR126 is associated with lung function in our sample of highlanders (p < 0.05). These variants may contribute to the physiological adaptations to hypobaric hypoxia, possibly by altering lung function. The new statistical approach might be a useful tool to detect selected variants in population studies.
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