ArticleHuman genetics2012
High altitude adaptation in Daghestani populations from the Caucasus.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Human adaptation to high-altitude: A contemporary comparison of the oxygen cascade in Andean, Tibetan and Ethiopian highlanders.Experimental physiology · 2026Review
- Signatures of high-altitude adaptation in Caucasus populations: evidence from the EGLN1-SPRTN locus.Genetica · 2026Article
- Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.Nature communications · 2024Article
- Comparative analysis of long noncoding RNA and mRNA expression provides insights into adaptation to hypoxia in Tibetan sheep.Scientific reports · 2022Article
- Seq-ing Higher Ground: Functional Investigation of Adaptive Variation Associated With High-Altitude Adaptation.Frontiers in genetics · 2020Article
- Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-altitude ducks.Heredity · 2019Article
- Population History and Altitude-Related Adaptation in the Sherpa.Frontiers in physiology · 2019Review
- Genomic insights into ayurvedic and western approaches to personalized medicine.Journal of genetics · 2016Review
- Altitude Adaptation: A Glimpse Through Various Lenses.High altitude medicine & biology · 2015Review
- Genetic and phenotypic differentiation of an Andean intermediate altitude population.Physiological reports · 2015Article
- A novel candidate region for genetic adaptation to high altitude in Andean populations.PloS one · 2015Article
- Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.International journal of molecular sciences · 2014Article
- Widespread signals of convergent adaptation to high altitude in Asia and america.American journal of human genetics · 2014Article
- Short-term responses of the kidney to high altitude in mountain climbers.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2014Review
- Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes.Genome biology · 2014Article
- Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations.PloS one · 2014Article
- Article
- The Andean adaptive toolkit to counteract high altitude maladaptation: genome-wide and phenotypic analysis of the Collas.PloS one · 2014Article
- Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.Molecular biology and evolution · 2013Article
- Patterns of population differentiation and natural selection on the celiac disease background risk network.PloS one · 2013Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 5 countries.
Funding
Abstract
We have surveyed 15 high-altitude adaptation candidate genes for signals of positive selection in North Caucasian highlanders using targeted re-sequencing. A total of 49 unrelated Daghestani from three ethnic groups (Avars, Kubachians, and Laks) living in ancient villages located at around 2,000 m above sea level were chosen as the study population. Caucasian (Adygei living at sea level, N = 20) and CEU (CEPH Utah residents with ancestry from northern and western Europe; N = 20) were used as controls. Candidate genes were compared with 20 putatively neutral control regions resequenced in the same individuals. The regions of interest were amplified by long-PCR, pooled according to individual, indexed by adding an eight-nucleotide tag, and sequenced using the Illumina GAII platform. 1,066 SNPs were called using false discovery and false negative thresholds of ~6%. The neutral regions provided an empirical null distribution to compare with the candidate genes for signals of selection. Two genes stood out. In Laks, a non-synonymous variant within HIF1A already known to be associated with improvement in oxygen metabolism was rediscovered, and in Kubachians a cluster of 13 SNPs located in a conserved intronic region within EGLN1 showing high population differentiation was found. These variants illustrate both the common pathways of adaptation to high altitude in different populations and features specific to the Daghestani populations, showing how even a mildly hypoxic environment can lead to genetic adaptation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.