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Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude.
Am J Respir Crit Care Med
362 - 366.
There is a significant genetic influence on arterial oxygen saturation (Sa(O(2))) in high-altitude (HA) residents. It is not known whether this is true of lowlanders ascending to HA. The I allele of the angiotensin-converting enzyme (ACE) gene is associated with low ACE activity and elite endurance performance. An excess of the I allele has also been reported in South American natives living over 3,000 m and among elite HA mountaineers who demonstrate extreme endurance in a hypoxic environment, where maintenance of Sa(O(2)) is crucial to performance. We postulated that the I allele may confer an advantage at HA through genotype-dependent alterations in Sa(O(2)). Rapid ascent (n = 32) and slow ascent groups (n = 40), ascending to approximately 5,000 m over 12.0 and 18.5 days, respectively, had their Sa(O(2)) assessed throughout and compared with their ACE genotype. Resting Sa(O(2)) was independent of the ACE genotype and remained so for the slow ascent group, in whom the fall in Sa(O(2)) with ascent was genotype independent. However, Sa(O(2)) with ascent was significantly associated with the ACE genotype in the rapid ascent group (p = 0.01) with a relatively sustained Sa(O(2)) in the II subjects. These data are the first to report an association of the I allele with the maintenance of Sa(O(2)) at HA.
|Title:||Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude.|
|Keywords:||Adult, Allelic Imbalance, Altitude, Anoxia, Blood Gas Analysis, DNA Transposable Elements, Female, Gene Deletion, Genotype, Humans, Male, Middle Aged, Mountaineering, Oxygen, Peptidyl-Dipeptidase A, Polymorphism, Genetic|
|UCL classification:||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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