Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude

High Alt Med Biol. 2007 Winter;8(4):278-85. doi: 10.1089/ham.2007.1044.

Abstract

Interindividual variation in acclimatization to altitude suggests a genetic component, and several candidate genes have been proposed. One such candidate is a polymorphism in the angiotensin converting enzyme (ACE) gene, where the insertion (I-allele), rather than the deletion (D-allele), of a 287 base pair sequence has been associated with lower circulating and tissue ACE activity and has a greater than normal frequency among elite endurance athletes and, in a single study, among elite high altitude mountaineers. We tested the hypothesis that the I-allele is associated with successful ascent to the extreme high altitude of 8000 m. 141 mountaineers who had participated in expeditions attempting to climb an 8000-m peak completed a questionnaire and provided a buccal swab for ACE I/D genotyping. ACE genotype was determined in 139 mountaineers. ACE genotype distribution differed significantly between those who had successfully climbed beyond 8000 m and those who had not (p = 0.003), with a relative overrepresentation of the I-allele among the successful group (0.55 vs. 0.36 in successful vs. unsuccessful, respectively). The I-allele was associated with increased maximum altitudes achieved: 8079 +/- 947 m for DDs, 8107 +/- 653 m for IDs, and 8559 +/- 565 m for IIs (p = 0.007). There was no statistical difference in ACE genotype frequency between those who climbed to over 8000 m using supplementary oxygen and those who did not (p = 0.267). This study demonstrates an association between the ACE I-allele and successful ascent to over 8000 m.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Altitude Sickness / genetics*
  • Altitude*
  • Genotype*
  • Humans
  • Logistic Models
  • Male
  • Mountaineering*
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic
  • Reference Values
  • Severity of Illness Index

Substances

  • Peptidyl-Dipeptidase A