Molecular analysis of genetic variation in angiotensin I-converting enzyme identifies no association with sporting ability: First report from Indian population

Abstract

Introduction: A polymorphism in the angiotensin-converting enzyme (ACE) gene was the first performance enhancing polymorphisms (PEPs) to be identified and correlated with athletic abilities. This polymorphism (rs. 5186) is the absence (deletion; D allele), rather than the presence (insertion, I allele) of 287bp Alu repeat element in intron 16. However, the association of ACE I/D polymorphism in sports abilities have been contradicted and debated. No study has evaluated the ACE gene polymorphism in Indian athletes so far. Hence, the genotype distribution and allelic frequency of ACE gene in selected Indian athletic and non-athletic population was studied.

Materials and methods: A total of 147 athletes and 131 controls were genotyped for the ACE gene polymorphism using PCR.

Results: No significant association was observed between the allelic frequencies of ACE gene in controls and athletes on a whole, as well as after sub-categorizing the athletes based on the type of sport they played (P > 0.1). However, a higher representation of I allele was observed in the athletes.

Conclusion: ACE genotyping studies need to focus on truly elite athletes of a single sporting discipline, to be able to find an association. The ACE I/D polymorphism may not be considered a marker for human performance, but can be further studied in combination with other potent performance enhancing polymorphisms.

Keywords: Angiotensin-converting enzyme; athletes; polymorphism.

Figure 1

ACE genotypes as observed on a 2% agarose gel containing ethidium bromide Illustrating homozygous DD, homozygous II and heterozygous ID genotype of ACE gene. Lane 1: DNA ladder (pBR322/HinfI digest), Lane 2-3, 5-6 and 8: homozygous II genotype, Lane 4: heterozygous ID genotype, Lane 7: homozygous DD genotype