ArticlePhysiological reports2015
Genetic and phenotypic differentiation of an Andean intermediate altitude population.
Article in Physiological reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Positive selection of AS3MT to arsenic water in Andean populations.Mutation research · 2015Trial
- Genomic Evidence for Natural Selection Underlying High-Altitude Adaptive Hemoglobin Levels Among Peruvian Andeans.Genome biology and evolution · 2026Article
- Changes and monitoring technology of human heart rate and blood oxygen saturation under high-altitude hypoxia.Frontiers in physiology · 2025Review
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- Denisovan admixture facilitated environmental adaptation in Papua New Guinean populations.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.Nature communications · 2024Article
- FunctionalScience advances · 2024Article
- Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.Frontiers in genetics · 2024Review
- Genotyped indigenous Kiwcha adults at high altitude are lighter and shorter than their low altitude counterparts.Journal of physiological anthropology · 2022Article
- Whole-Genome Analysis Deciphers Population Structure and Genetic Introgression Among Bovine Species.Frontiers in genetics · 2022Article
- Anterior Circulation Acute Ischemic Stroke in the Plateau of China: Risk Factors and Clinical Characteristics.Frontiers in neurology · 2022Article
- Novel Targets in a High-Altitude Pulmonary Hypertension Rat Model Based on RNA-seq and Proteomics.Frontiers in medicine · 2021Article
- Article
- Selection Signatures Analysis Reveals Genes Associated with High-Altitude Adaptation in Tibetan Goats from Nagqu, Tibet.Animals : an open access journal from MDPI · 2020Article
- Goat Genomic Resources: The Search for Genes Associated with Its Economic Traits.International journal of genomics · 2020Review
- Thrifty phenotype versus cold adaptation: trade-offs in upper limb proportions of Himalayan populations of Nepal.Royal Society open science · 2018Article
- Human Genetic Adaptation to High Altitudes: Current Status and Future Prospects.Quaternary international : the journal of the International Union for Quaternary Research · 2017Article
- Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.Scientific reports · 2017Article
- Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits.Scientific reports · 2016Article
- Genetics of human origin and evolution: high-altitude adaptations.Current opinion in genetics & development · 2016Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Highland populations living permanently under hypobaric hypoxia have been subject of extensive research because of the relevance of their physiological adaptations for the understanding of human health and disease. In this context, what is considered high altitude is a matter of interpretation and while the adaptive processes at high altitude (above 3000 m) are well documented, the effects of moderate altitude (below 3000 m) on the phenotype are less well established. In this study, we compare physiological and anthropometric characteristics as well as genetic variations in two Andean populations: the Calchaquíes (2300 m) and neighboring Collas (3500 m). We compare their phenotype and genotype to the sea-level Wichí population. We measured physiological (heart rate, oxygen saturation, respiration rate, and lung function) as well as anthropometric traits (height, sitting height, weight, forearm, and tibia length). We conducted genome-wide genotyping on a subset of the sample (n = 74) and performed various scans for positive selection. At the phenotypic level (n = 179), increased lung capacity stood out in both Andean groups, whereas a growth reduction in distal limbs was only observed at high altitude. At the genome level, Calchaquíes revealed strong signals around PRKG1, suggesting that the nitric oxide pathway may be a target of selection. PRKG1 was highlighted by one of four selection tests among the top five genes using the population branch statistic. Selection tests results of Collas were reported previously. Overall, our study shows that some phenotypic and genetic differentiation occurs at intermediate altitude in response to moderate lifelong selection pressures.
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