The Genetics of Altitude Tolerance

MacInnis, Martin J.; Wang, Pei; Koehle, Michael S.; Rupert, Jim L.

doi:10.1097/jom.0b013e318206b112

Cited by 26 publications

(16 citation statements)

References 83 publications

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“…Differences in age and sex may have contributed to the weak correlations. Establishing whether or not AMS aggregates in families is essential for genetic studies of AMS susceptibility, as familial aggregation is a criterion for the genetic basis of AMS [5]. Until larger family studies are conducted, family history of AMS will not be useful for counseling travelers to high altitude.…”

Section: Discussionmentioning

confidence: 99%

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A Prospective Epidemiological Study of Acute Mountain Sickness in Nepalese Pilgrims Ascending to High Altitude (4380 m)

et al. 2013

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BackgroundEach year, thousands of pilgrims travel to the Janai Purnima festival in Gosainkunda, Nepal (4380 m), ascending rapidly and often without the aid of pharmaceutical prophylaxis.MethodsDuring the 2012 Janai Purnima festival, 538 subjects were recruited in Dhunche (1950 m) before ascending to Gosainkunda. Through interviews, subjects provided demographic information, ratings of AMS symptoms (Lake Louise Scores; LLS), ascent profiles, and strategies for prophylaxis.ResultsIn the 491 subjects (91% follow-up rate) who were assessed upon arrival at Gosainkunda, the incidence of AMS was 34.0%. AMS was more common in females than in males (RR = 1.57; 95% CI = 1.23, 2.00), and the AMS incidence was greater in subjects >35 years compared to subjects ≤35 years (RR = 1.63; 95% CI = 1.36, 1.95). There was a greater incidence of AMS in subjects who chose to use garlic as a prophylactic compared to those who did not (RR = 1.69; 95% CI = 1.26, 2.28). Although the LLS of brothers had a moderate correlation (intraclass correlation = 0.40, p = 0.023), sibling AMS status was a weak predictor of AMS.ConclusionsThe incidence of AMS upon reaching 4380 m was 34% in a large population of Nepalese pilgrims. Sex, age, and ascent rate were significant factors in the development of AMS, and traditional Nepalese remedies were ineffective in the prevention of AMS.

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Section: Discussionmentioning

confidence: 99%

“…The basis of these individual differences in susceptibility to AMS is not well understood (reviewed in Ref. [5]), and little progress has been made in establishing predictive tools for AMS.…”

Section: Introductionmentioning

confidence: 99%

A Prospective Epidemiological Study of Acute Mountain Sickness in Nepalese Pilgrims Ascending to High Altitude (4380 m)

et al. 2013

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“…8,25 In 2011, MacInnis et al reviewed the evidence for inherited susceptibility to acute mountain sickness. 26 A large number of candidate genes have been associated with AMS susceptibility, including genes encoding angiotensin-converting enzyme (ACE), angiotensin II type 1 receptor (AGTR1), beta-2 adrenergic receptor (ADRB2), bradykinin receptor-B2 (BDKRB2), heat shock protein 70 (Hsp70), HIF1a, endothelial nitric oxide synthase (eNOS), and vascular endothelial growth factor (VEGF) 8 (Table 2). Following this report, 2 articles reported data regarding omics research and AMS.…”

Section: Haplotypementioning

confidence: 99%

‘Ome’ on the range: update on high-altitude acclimatization/adaptation and disease

Luo

Wang

et al. 2014

Mol. BioSyst.

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“…Although the impact of altitude attained and rate of ascent on the etiology of HAPE is well known, there are clues to the contribution of a genetic background that influence the efficacy of altitude acclimatization. [ 3 ]…”

Section: Introductionmentioning

confidence: 99%

Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk

Rong

Zhu

et al. 2017

Medicine

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High altitude pulmonary edema (HAPE) is a paradigm of pulmonary edema. Mutations in regulator of telomere elongation helicase1 (RTEL1) represent an important contributor to risk for pulmonary fibrosis. However, little information is found about the association between RTEL1 and HAPE risk. The present study was undertaken to tentatively explore the potential relation between single-nucleotide polymorphisms (SNPs) in RTEL1 and HAPE risk in Chinese Han population. A total of 265 HAPE patients and 303 healthy controls were included in our case-control study. Four SNPs in RTEL1 were selected and genotyped using the Sequenom MassARRAY method. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated by unconditional logistic regression with adjustment for gender and age. All P values were Bonferroni corrected, and statistical significance was set at P < .0025 (.05/20). In allelic model analysis, we found that the allele “G” of rs6089953 and rs6010621 and the allele “A” of rs2297441 were associated with decreased risk of HAPE. In the genetic model analysis, we found that rs6010621, rs6089953, and rs2297441 were relevant to decreased HAPE risk under dominant model (rs6010621: OR = 0.55; 95% CI = 0.39–0.78; P = .001; rs6089953: OR = 0.68; 95% CI = 0.48–0.96; P = .027; rs2297441: OR = 0.63; 95% CI = 0.45–0.89; P = .008, respectively) and additive model (rs6010621: OR = 0.51; 95% CI = 0.46–0.81; P < .001; rs6089953: OR = 0.72; 95% CI = 0.55–0.95; P = .022; rs2297441: OR = 0.73; 95% CI = 0.57–0.95; P = .019, respectively). SNPs rs6010621 remained significant after Bonferroni correction (P < .0025). In addition, haplotype “GG, GT, AT” of rs6089953-rs6010621 were detected significantly associated with HAPE risk (P < .05), haplotype “GG” remained significant after Bonferroni correction (P < .0025). Our findings provide new evidence for the association between SNPs in RTEL1 and a decreased risk HAPE in the Chinese population. The results need further confirmation.

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The Genetics of Altitude Tolerance

Abstract: 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.

Cited by 26 publications

References 83 publications

A Prospective Epidemiological Study of Acute Mountain Sickness in Nepalese Pilgrims Ascending to High Altitude (4380 m)

A Prospective Epidemiological Study of Acute Mountain Sickness in Nepalese Pilgrims Ascending to High Altitude (4380 m)

‘Ome’ on the range: update on high-altitude acclimatization/adaptation and disease

Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk

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