Kothari Sweta T, Chheda Pratiksha, Chatterjee Leena, Das Bibhu R
Research and Development, Super Religare Laboratories Ltd, S. V. Road, Goregaon (W), Mumbai-62, India.
Indian J Hum Genet. 2012 Jan;18(1):62-5. doi: 10.4103/0971-6866.96653.
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.
A total of 147 athletes and 131 controls were genotyped for the ACE gene polymorphism using PCR.
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.
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.
血管紧张素转换酶（ACE）基因多态性是首个被鉴定出并与运动能力相关的增强表现多态性（PEP）。这种多态性（rs.5186）是第16内含子中287bp Alu重复元件的缺失（缺失；D等位基因），而非存在（插入，I等位基因）。然而，ACE I/D多态性与运动能力的关联一直存在争议。到目前为止，尚无研究评估印度运动员的ACE基因多态性。因此，本研究对选定的印度运动员和非运动员群体中ACE基因的基因型分布和等位基因频率进行了研究。
使用聚合酶链反应（PCR）对147名运动员和131名对照者进行ACE基因多态性基因分型。
总体而言，以及在根据运动员所从事的运动类型进行亚分类后，对照组和运动员组中ACE基因的等位基因频率之间均未观察到显著关联（P>0.1）。然而，在运动员中观察到I等位基因的比例更高。
ACE基因分型研究需要聚焦于单一运动项目的真正精英运动员，以便能够发现关联。ACE I/D多态性可能不能被视为人类表现的标志物，但可与其他有效的增强表现多态性结合进行进一步研究。
