Key result
Elite high altitude mountaineers had significantly higher frequencies of the ACE I allele (60% vs 39%, p=0.002), ACTN3 X allele (50% vs 36%), and AMPD1 T allele (30% vs 13%) compared to controls.
Population
Elite Bulgarian alpinists (n=5) and control group of athletes (n=72)
Design
Case-control
Authors
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Genetic variants may aid high-altitude adaptation; leaves open causal role and any role for screening.
Case-Control (n=77)
Absolute Event Rate: 60% vs 39%
p-value: p=0.002
Elite high altitude mountaineers possess higher frequencies of specific genetic variants (ACE I, ACTN3 X, AMPD1 T) that may contribute to successful high altitude ascents.
Djarova et al. (2013) conducted a case-control in Elite high altitude mountaineers (n=77). Elite high altitude mountaineer status vs. Average athletes was evaluated on ACE I allele frequency (p=0.002). Elite high altitude mountaineers had significantly higher frequencies of the ACE I allele (60% vs 39%, p=0.002), ACTN3 X allele (50% vs 36%), and AMPD1 T allele (30% vs 13%) compared to controls.
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