Evidence for and Against Genetic Predispositions to Acute and Chronic Altitude Illnesses.

  title={Evidence for and Against Genetic Predispositions to Acute and Chronic Altitude Illnesses.},
  author={J MacInnisMartin and S KoehleMichael},
  journal={High Altitude Medicine \& Biology},
Abstract MacInnis, Martin J., and Michael S. Koehle. Evidence for and against genetic predispositions to acute and chronic altitude illnesses. High Alt Med Biol. 17:281–293, 2016.—Humans exhibit marked variation in their responses to hypoxia, with susceptibility to acute and chronic altitude illnesses being a prominent and medically important example. Many have hypothesized that genetic differences are the cause of these variable responses to hypoxia; however, until recently, these hypotheses… 

Genetic Predisposition to High-Altitude Pulmonary Edema.

This is the first study identifying an inherited missense mutation of a gene related toPAH in a family with re-entry HAPE showing a progression to borderline PAH in the index patient, and suggests a genetic predisposition in some individuals that might be linked to PAH signaling pathways.

EPAS1 and VEGFA gene variants are related to the symptoms of acute mountain sickness in Chinese Han population: a cross-sectional study

Under the latest LLSS, it is found that EPAS1 and VEGFA gene variants are related to AMS susceptibility through different AMS-related symptoms in the Chinese Han population; this tool might be useful for screening susceptible populations and predicting clinical symptoms leading toAMS before an individual reaches HA.

Association between ACTN3 and acute mountain sickness

It is concluded that individuals with at least one R allele of the R577X polymorphism seems to be more susceptible to the effects of hypoxia during the acclimatization process and may develop AMS symptoms.

The relationship between anxiety and acute mountain sickness

Trait anxiety at low altitude was an independent predictor of future severe AMS development at HA and state anxiety at HA independently predicted AMS and its severity.

Differences in Tolerance to Hypoxia: Physiological, Biochemical, and Molecular-Biological Characteristics

It is important to develop a method for the evaluation of organisms’ basic hypoxia tolerance without the necessity of any oxygen deficiency exposure, so as to contribute to new personalized medicine approaches’ development for diagnostics and the treatment of inflammatory and tumor diseases, taking into account hypoxian tolerance differences.

No Relevant Analogy Between COVID-19 and Acute Mountain Sickness.

A recent publication suggests that pathophysiological mechanisms underlying acute mountain sickness may overlap with the mechanisms causing coronavirus disease-19, but this concept is not supported by scientific evidence.

The Role of Salivary miR-134-3p and miR-15b-5p as Potential Non-invasive Predictors for Not Developing Acute Mountain Sickness

It is revealed for the first time that salivary miRNAs and miR-15b-5p can be used as non-invasive biomarkers for predicting AMS− individuals pre-exposed to high altitude.

Exercise Performance in Central Asian Highlanders: A Cross-Sectional Study.

V'O2peak and Wpeak of highlanders studied at 3,250 m, near their altitude of residence, were reduced by about one quarter compared with mean predicted values for lowlanders, and the provided prediction models for V'O 2peak, Wpeak, and METs in central Asian highlanders might be valuable for comparisons with other high altitude populations.

Acute mountain sickness, arterial oxygen saturation and heart rate among Tibetan students who reascend to Lhasa after 7 years at low altitude: a prospective cohort study

Healthy Tibetans are mostly protected against AMS and primarily maintain their good adaptation to high altitude, even after a long period of stay at low altitude.



Evidence for a genetic basis for altitude illness: 2010 update.

Although numerous studies have been performed to investigate specific genes, few have looked for evidence of heritability or familial transmission, or for epidemiological patterns that would be consistent with genetically influenced conditions, and this article updates that review and attempts to tabulate all the available genetic data pertaining to these conditions.

Evidence for a genetic basis for altitude-related illness.

The epidemiological evidence for a genetic component to the various forms of altitude-related illness, such as innate susceptibility, familial clustering, and patterns of population susceptibility, as well as the molecular evidence for specific genetic risk factors are reviewed.

The Genetics of Altitude Tolerance: The Evidence for Inherited Susceptibility to Acute Mountain Sickness

The data suggest that genotype contributes to capacity to rapidly and efficiently acclimatize to altitude; nevertheless, the mechanisms by which this occurs have yet to be elucidated.

Genetic association analysis of chronic mountain sickness in an Andean high-altitude population.

This study does not find evidence of associations between the polymorphisms linked to the candidate genes and severe polycythemia; this does not, however, exclude that variations in these genes contribute to polycy Themia and possibly CMS.

eNOS allelic variants at the same locus associate with HAPE and adaptation

The hypothesise that allelic variants at the same locus in a gene are involved in adaptation and HAPE and investigated the Glu298Asp and 4b/4a polymorphisms of the endothelial nitric oxide synthase gene and −344T/C, intron-2 conversion and Lys173Arg polymorphisms in 59 patients with HAPE.

Human genetic adaptation to high altitude.

  • L. Moore
  • Biology
    High altitude medicine & biology
  • 2001
Recent studies which address the question as to whether genetic adaptation to high altitude has occurred and suggest that Tibetans are better adapted are reviewed.

Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness

It is concluded that VEGFA may have an important role in the AMS process and single-nucleotide polymorphisms of these genes in patients were evaluated in an association study using a case-control design.

No association between alleles of the bradykinin receptor-B2 gene and acute mountain sickness

The results of this association study do not support the hypothesis that variants in BDKRB2 influence altitude tolerance in a lowland Nepalese population; however, the deviation from Hardy–Weinberg equilibrium observed for the C − 58T polymorphism could be explained by self-selection for altitudeolerance in the festival attendees.

Physiological risk factors for severe high-altitude illness: a prospective cohort study.

In a large population of altitude visitors, chemosensitivity parameters (high desaturation and low ventilatory response to hypoxia at exercise) were independent predictors of severe high-altitude illness and improved the discrimination ability of a risk prediction model.