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

Thompson, Julian, Raitt, James, Hutchings, Lynn, Drenos, Fotios, Bjargo, Eirik, Loset, Are, Grocott, Mike and Montgomery, Hugh (2007) Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude High Altitude Medicine & Biology, 8, (4), pp. 278-285. (doi:10.1089/ham.2007.1044). (PMID:18081503).


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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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1089/ham.2007.1044
ISSNs: 1527-0297 (print)
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QP Physiology
R Medicine > RC Internal medicine > RC1200 Sports Medicine
Organisations: Human Development & Health
ePrint ID: 348938
Date :
Date Event
14 December 2007Published
Date Deposited: 04 Mar 2013 14:11
Last Modified: 17 Apr 2017 15:58
Further Information:Google Scholar

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