ArticlePLoS genetics2012
The genetic architecture of adaptations to high altitude in Ethiopia.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 2 of them syntheses that pooled it.
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Who cites it
121 citing papers in PubMed, 2 syntheses or guidelines pooled it, 207 citations in OpenAlex.
- micro-RNAs dependent regulation of DNMT and HIF1α gene expression in thrombotic disorders.Scientific reports · 2019Pooled it
- Combination of 247 Genome-Wide Association Studies Reveals High Cancer Risk as a Result of Evolutionary Adaptation.Molecular biology and evolution · 2018Pooled it
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Human adaptation to high-altitude: A contemporary comparison of the oxygen cascade in Andean, Tibetan and Ethiopian highlanders.Experimental physiology · 2026Review
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- Signatures of high-altitude adaptation in Caucasus populations: evidence from the EGLN1-SPRTN locus.Genetica · 2026Article
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- HiLand Resource: A Comprehensive Database of Highland Human Populations.Genomics, proteomics & bioinformatics · 2025Article
- Hypoxia and Tissue Regeneration: Adaptive Mechanisms and Therapeutic Opportunities.International journal of molecular sciences · 2025Review
- DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases.Human genomics · 2025Review
- Footprints of Worldwide Adaptation in Structured Populations of Drosophila melanogaster Through the Expanded DEST 2.0 Genomic Resource.Molecular biology and evolution · 2025Article
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- Chromosome-level genome of Neodon fuscus sheds light on the evolution and plateau adaptation of N. fuscus and Neodon.BMC genomics · 2025Article
- Distinct methylomic signatures of high-altitude acclimatization and adaptation in the Tibetan Plateau.Cell discovery · 2025Article
- Genome-wide discovery of selection signatures in four Anatolian sheep breeds revealed by ddRADseq.Scientific reports · 2024Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.Physiological reports · 2024Article
- FunctionalScience advances · 2024Article
- Pain control and neonatal outcomes in 211 women under epidural anesthesia during childbirth at high altitude in Qinghai, China.Frontiers in medicine · 2024Article
- Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.Frontiers in genetics · 2024Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Although hypoxia is a major stress on physiological processes, several human populations have survived for millennia at high altitudes, suggesting that they have adapted to hypoxic conditions. This hypothesis was recently corroborated by studies of Tibetan highlanders, which showed that polymorphisms in candidate genes show signatures of natural selection as well as well-replicated association signals for variation in hemoglobin levels. We extended genomic analysis to two Ethiopian ethnic groups: Amhara and Oromo. For each ethnic group, we sampled low and high altitude residents, thus allowing genetic and phenotypic comparisons across altitudes and across ethnic groups. Genome-wide SNP genotype data were collected in these samples by using Illumina arrays. We find that variants associated with hemoglobin variation among Tibetans or other variants at the same loci do not influence the trait in Ethiopians. However, in the Amhara, SNP rs10803083 is associated with hemoglobin levels at genome-wide levels of significance. No significant genotype association was observed for oxygen saturation levels in either ethnic group. Approaches based on allele frequency divergence did not detect outliers in candidate hypoxia genes, but the most differentiated variants between high- and lowlanders have a clear role in pathogen defense. Interestingly, a significant excess of allele frequency divergence was consistently detected for genes involved in cell cycle control and DNA damage and repair, thus pointing to new pathways for high altitude adaptations. Finally, a comparison of CpG methylation levels between high- and lowlanders found several significant signals at individual genes in the Oromo.
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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.