Human angiotensin I-converting enzyme gene and endurance performance

Human angiotensin I-converting enzyme gene and endurance performance
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DOI:
10.1152/jappl.1999.87.4.1313
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发表时间:
1999-10-01
影响因子:
3.3
通讯作者:
Montgomery, H
Montgomery, H
中科院分区:
医学2区
文献类型:
--
作者:
Myerson, S;Hemingway, H;Montgomery, H

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人类的身体表现受到遗传因素的强烈影响。已经报道了人血管紧张素I转化酶(ACE)基因的结构变异,其中插入(I)变体与比缺失(D)基因更低的ACE水平相关。我们以前曾报道过,I型变异与高海拔登山运动员和英国陆军新兵耐力表现的改善有关。我们现在研究91名英国奥运会标准跑步者(79名白人)的基因型分布。从受试者捐赠的10 ml含盐漱口水中含有的颊细胞中提取DNA,通过PCR扩增多态性区域鉴定ACE基因的I和D变体。I等位基因的频率随着距离的增加而增加[小于或等于200 m(n = 20),400- 3,000 m(n = 37)和大于或等于5,000 m(n = 34)分别为0.35,0.53和0.62;线性趋势P = 0.009]。在404名来自其他19个混合运动学科的奥运会标准运动员中(耐力表现不一定是关键因素),I等位基因与对照组中发现的等位基因没有显著差异:0.50 vs. 0.49(P = 0.526)。这些结果支持I等位基因与精英耐力表现的正相关。
Human physical performance is strongly influenced by genetic factors. A variation in the structure of the human angiotensin I-converting enzyme (ACE) gene has been reported in which the insertion (I) variant is associated with lower ACE levels than the deletion (D) gene. We have previously reported that the I variant was associated with improved endurance performance in high-altitude mountaineers and British Army recruits. We now examine this genotype distribution in 91 British Olympic-standard runners (79 Caucasians). DNA was extracted from the buccal cells contained in 10 mi of saline mouthwash donated by the subjects, and the I and D variants of the ACE gene were identified by PCR amplification of the polymorphic region. There was an increasing frequency of the I allele with distance run [0.35, 0.53, and 0.62 for less than or equal to 200 m (n = 20), 400-3,000 m (n = 37), and greater than or equal to 5,000 m (n = 34), respectively; P = 0.009 for linear trend]. Among 404 Olympic-standard athletes from 19 other mixed sporting disciplines (in which endurance performance was not necessarily a key factor), the I allele did not differ significantly from that found in control subjects: 0.50 vs. 0.49 (P = 0.526). These results support a positive association of the I allele with elite endurance performance.