ArticleScientific reports2016
Ancient DNA reveals selection acting on genes associated with hypoxia response in pre-Columbian Peruvian Highlanders in the last 8500 years.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 30 citations in OpenAlex.
- Understanding pre-eclampsia and fetal growth restriction at high altitude: A narrative review.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Review
- Rapid adaptive increase of amylase gene copy number in Indigenous Andeans.Nature communications · 2026Article
- Whole methylomes reveal high-altitude-associated methylation at hypoxia and pigmentation genes in South American Indigenous populations.Environmental epigenetics · 2025Article
- Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes.American journal of human genetics · 2022Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Learning the properties of adaptive regions with functional data analysis.PLoS genetics · 2020Article
- The Genetic Architecture of Chronic Mountain Sickness in Peru.Frontiers in genetics · 2019Article
- Article
- The genetic prehistory of the Andean highlands 7000 years BP though European contact.Science advances · 2018Article
- Archaeogenomic evidence from the southwestern US points to a pre-Hispanic scarlet macaw breeding colony.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Selection scan reveals three new loci related to high altitude adaptation in Native Andeans.Scientific reports · 2018Article
- Human Genetic Adaptation to High Altitudes: Current Status and Future Prospects.Quaternary international : the journal of the International Union for Quaternary Research · 2017Article
- Harnessing ancient genomes to study the history of human adaptation.Nature reviews. Genetics · 2017Review
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Archaeological evidence shows that humans began living in the high altitude Andes approximately 12,000 years ago. Andean highlanders are known to have developed the most complex societies of pre-Columbian South America despite challenges to their health and reproductive success resulting from chronic exposure to hypoxia. While the physiological adaptations to this environmental stressor are well studied in contemporary Andean highlanders, the molecular evolutionary processes associated with such adaptations remain unclear. We aim to better understand how humans managed to demographically establish in this harsh environment by addressing a central question: did exposure to hypoxia drive adaptation via natural selection within Andean populations or did an existing phenotype--characterized by reduced susceptibility to hypoxic stress--enable human settlement of the Andes? We genotyped three variable loci within the NOS3 and EGLN1 genes previously associated with adaptation to high altitude in 150 ancient human DNA samples from Peruvian high altitude and coastal low altitude sites in a time frame between ~8500-560 BP. We compare the data of 109 successful samples to forward simulations of genetic drift with natural selection and find that selection, rather than drift, explains the gradual frequency changes observed in the highland populations for two of the three SNPs.
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