ArticleAmerican journal of human genetics2013
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness.High altitude medicine & biology · 2014Pooled it
- Chronic high-altitude exposure and intracerebral hemorrhage: A novel perspective from the vascular-immune-neuronal network.Neuroprotection (Chichester, England) · 2026Review
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases.Human genomics · 2025Review
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin.Nature communications · 2025Article
- Chasing genes at high-altitude.Experimental physiology · 2025Article
- Increased Transferrin Concentrations Are Not Associated With Thrombosis in People Living at High Altitude.Journal of hematology · 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
- SENP3-FIS1 axis promotes mitophagy and cell survival under hypoxia.Cell death & disease · 2024Article
- Genomic Insights into Tibetan Sheep Adaptation to Different Altitude Environments.International journal of molecular sciences · 2024Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Altitude illnesses.Nature reviews. Disease primers · 2024Review
- Genomic evidence for human-mediated introgressive hybridization and selection in the developed breed.BMC genomics · 2024Article
- Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.The Science of the total environment · 2024Article
- FunctionalScience advances · 2024Article
- Cardiovascular physiology and pathophysiology at high altitude.Nature reviews. Cardiology · 2024Review
- Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.Frontiers in genetics · 2024Review
- High altitude polycythemia and its maladaptive mechanisms: an updated review.Frontiers in medicine · 2024Review
- Modern medical services, a double-edged sword manages symptoms, but accumulates genetic background of cardiovascular diseases: A cross populational analysis of 217 countries.Health science reports · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 4 institutions in 2 countries.
Funding
Abstract
The hypoxic conditions at high altitudes present a challenge for survival, causing pressure for adaptation. Interestingly, many high-altitude denizens (particularly in the Andes) are maladapted, with a condition known as chronic mountain sickness (CMS) or Monge disease. To decode the genetic basis of this disease, we sequenced and compared the whole genomes of 20 Andean subjects (10 with CMS and 10 without). We discovered 11 regions genome-wide with significant differences in haplotype frequencies consistent with selective sweeps. In these regions, two genes (an erythropoiesis regulator, SENP1, and an oncogene, ANP32D) had a higher transcriptional response to hypoxia in individuals with CMS relative to those without. We further found that downregulating the orthologs of these genes in flies dramatically enhanced survival rates under hypoxia, demonstrating that suppression of SENP1 and ANP32D plays an essential role in hypoxia tolerance. Our study provides an unbiased framework to identify and validate the genetic basis of adaptation to high altitudes and identifies potentially targetable mechanisms for CMS treatment.
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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.