ArticleScientific reports2018
Selection scan reveals three new loci related to high altitude adaptation in Native Andeans.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 31 citations in OpenAlex.
- Genetic insights into the peoples who shaped the American continent.Genetics and molecular biology · 2026Article
- Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations.Communications biology · 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
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.Clinical genetics · 2024Article
- FunctionalScience advances · 2024Article
- Review
- The Role ofCells · 2023Review
- Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.Molecular biology and evolution · 2022Article
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- The genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America.Genetics · 2022Article
- Genetic differentiation in East African ethnicities and its relationship with endurance running success.PloS one · 2022Article
- Hypoxia and Inflammation: Insights From High-Altitude Physiology.Frontiers in physiology · 2021Review
- The genetic structure and adaptation of Andean highlanders and Amazonians are influenced by the interplay between geography and culture.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Andean Altiplano has been occupied continuously since the late Pleistocene, ~12,000 years ago, which places the Andean natives as one of the most ancient populations living at high altitudes. In the present study, we analyzed genomic data from Native Americans living a long-time at Andean high altitude and at Amazonia and Mesoamerica lowland areas. We have identified three new candidate genes - SP100, DUOX2 and CLC - with evidence of positive selection for altitude adaptation in Andeans. These genes are involved in the TP53 pathway and are related to physiological routes important for high-altitude hypoxia response, such as those linked to increased angiogenesis, skeletal muscle adaptations, and immune functions at the fetus-maternal interface. Our results, combined with other studies, showed that Andeans have adapted to the Altiplano in different ways and using distinct molecular strategies as compared to those of other natives living at high altitudes.
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