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

Thompson, J; Raitt, J; Hutchings, L; Drenos, F; Bjargo, E; Loset, A; ... Caudwell Xtreme Everest Res Grp,; + view all (2007) Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude. HIGH ALT MED BIOL , 8 (4) 278 - 285. 10.1089/ham.2007.1044.

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Abstract

Thomspon Julian, James Raitt, Lynn Hutchings, Fotios Drenos, Eirik Bjargo, Are Loset, Mike Grocott, and Hugh Montgomery, for the Caudwell Xtreme Everest Research Group. Angiotensinconverting enzyme genotype and successful ascent to extreme high altitude. High Alt. Med. Biol. 8:278-285, 2007-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 in 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 (3559 +/- 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.

Type:Article
Title:Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude
DOI:10.1089/ham.2007.1044
Keywords:genetics, altitude, acclimatization, hypoxia, angiotensin-converting enzyme, I/D GENE POLYMORPHISM, HYPOXIC PULMONARY VASOCONSTRICTION, INSERTION DELETION POLYMORPHISM, ACE GENE, ENDURANCE PERFORMANCE, PHYSICAL PERFORMANCE, ALDOSTERONE SYSTEM, ASSOCIATION, HUMANS, ALLELE
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Neuroscience, Physiology and Pharmacology
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) > Clinical Physiology
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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