Thompson Julian, Raitt James, Hutchings Lynn, Drenos Fotios, Bjargo Eirik, Loset Are, Grocott Mike, Montgomery Hugh
UCL Institute for Human Health and Performance, London, United Kingdom.
High Alt Med Biol. 2007 Winter;8(4):278-85. 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.
个体对高原环境适应能力的差异表明存在遗传因素，并且已经提出了几个候选基因。其中一个候选基因是血管紧张素转换酶（ACE）基因的多态性，在该基因中，287个碱基对序列的插入（I等位基因）而非缺失（D等位基因）与较低的循环和组织ACE活性相关，并且在优秀耐力运动员中以及在一项单独研究中，在优秀的高海拔登山者中，其频率高于正常水平。我们检验了I等位基因与成功攀登至8000米极端高海拔高度相关的假设。141名参加过攀登8000米高峰探险的登山者完成了一份问卷，并提供了用于ACE I/D基因分型的口腔拭子。对139名登山者进行了ACE基因型测定。成功攀登超过8000米的登山者与未成功攀登的登山者之间的ACE基因型分布存在显著差异（p = 0.003），成功组中I等位基因的相对比例过高（成功组与未成功组分别为0.55和0.36）。I等位基因与所达到的最高海拔高度增加相关：DD型为8,079±947米，ID型为8,107±653米，II型为8,559±565米（p = 0.007）。使用辅助氧气攀登至8000米以上的登山者与未使用辅助氧气的登山者之间的ACE基因型频率没有统计学差异（p = 0.267）。这项研究证明了ACE I等位基因与成功攀登至8000米以上之间存在关联。
