Human angiotensin I-converting enzyme gene and endurance performance

• DOI: 10.1152/jappl.1999.87.4.1313
• Publication Date: 2017-12-22T14:58:53Z
• Authors: Saul Myerson; Harry Hemingway; Richard Budget; John Martin; Steve Humphries; Hugh Montgomery
• Keywords: Male; 03 medical and health sciences; 0302 clinical medicine; Gene Frequency; Physical Endurance; Humans; Female; Peptidyl-Dipeptidase A; Alleles; Running; 3. Good health

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 ml 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 ≤200 m ( n = 20), 400–3,000 m ( n = 37), and ≥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.