DISTRIBUTIONS OF ACE I/D AND ACTN3 R/X GENE POLYMORPHISMS IN MULTI-ETHNIC MALAYSIAN AND AUSTRALIAN POPULATIONS

Abstract

ABSTRACT

Background: The distribution patterns of the most studied variants related to sports performance which are the angiotensin I-converting enzyme (ACE) I/D and alpha-actinin-3 (ACTN3) R/X polymorphisms in the multi-ethnic Malaysian population have not been well documented. Thus, this study aims to examine the distribution patterns ofACE I/D and ACTN3 R/X polymorphisms in four ethnic groups in Malaysia, and ethnic variation of these polymorphisms across different ethnicity.

Materials and Methods: DNA samples were retrieved via buccal cell from 180 Asians from Malaysia (99 Malays, 45 Chinese, 23 Other Bumiputras, and 13 Indians) and 180 Caucasians from Australia. The polymorphisms were identified through Polymerase Chain Reaction and Restriction Fragment Length Polymorphism analysis. The chi-square test was used to analyse the data.

Result: This study found that the distribution of ACE I/D polymorphism varied among different ethnic groups within Malaysia as well as between Malaysian and Australian populations, but not for the ACTN3 R/X polymorphism. Among the four ethnic groups in Malaysia, the Malay and Other Bumiputra groups had the highest frequencies of II (0.40) and DD (0.26) genotypes, respectively. Meanwhile, the Malaysians had the higher frequencies of the II (0.31 vs. 0.25) and ID (0.54 vs. 0.47) genotypes compared to the Australians.

Conclusion: In conclusion, the different pattern in the distribution of ACE I/D polymorphism observed in this study increases the possibility that the effect of ACE I/D polymorphism on sports performance may also differ by ethnicity. Conversely, the present finding on ACTN3 R/X polymorphism suggests that its effect on sports performance may not vary by ethnicity.  

Keywords: ACE I/D polymorphism, ACTN3 R/X polymorphism, multi-ethnic Malaysian population, Australian population, ethnicity