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


Thompson, J and Raitt, J and Hutchings, L and Drenos, F and Bjargo, E and Loset, A and Grocott, M and Montgomery, H and Ahuja, V and Aref-Adib, G and Burnham, R and Chisholm, A and Clarke, K and Coates, D and Coates, M and Cook, D and Cox, M and Dhillon, S and Dougall, C and Doyle, P and Duncan, P and Edsell, M and Edwards, LM and Evans, L and Gardiner, P and Gunning, P and Hart, N and Harrington, J and Harvey, J and Holloway, C and Howard, D and Hurlbut, D and Imray, C and Ince, C and Jonas, M and van der Kaaij, J and Khosravi, M and Kolfschoten, N and Levett, D and Leury, H and Luks, A and Martin, D and McMorrow, R and Meale, P and Mitchell, K and Morgan, G and Morgan, J and Murray, A and Mythen, M and Newman, S and O'Dwyer, M and Pate, J and Plant, T and Pun, M and Richards, P and Richardson, A and Rodway, G and Simpson, J and Stroud, C and Stroud, M and Stygal, J and Symons, B and Szawarski, P and Van Tulleken, A and Van Tulleken, C and Vercueil, A and Wandrag, L and Wilson, M and Windsor, J and Basnyat, B and Clarke, C and Hornbein, T and Milledge, J and West, J, Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude, High Altitude Medicine and Biology, 8, (4) pp. 278-285. ISSN 1527-0297 (2007) [Refereed Article]

DOI: doi:10.1089/ham.2007.1044


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. © Mary Ann Liebert, Inc. 2007.

Item Details

Item Type:Refereed Article
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genetics not elsewhere classified
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the health sciences
UTAS Author:Edwards, LM (Dr Lindsay Edwards)
ID Code:64486
Year Published:2007
Web of Science® Times Cited:27
Deposited By:Medicine
Deposited On:2010-08-05
Last Modified:2010-08-05

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