Genotype and Allele Frequency of P450 Oxidoreductase *28 Gene Polymorphism in South Indian Population

Objective: To establish the normative frequency of POR *28 genetic variant in South Indian population. Methods: This study is a genetic epidemiological study conducted on healthy volunteers belonging to south India. A total of 108 healthy volunteers who satisfied the eligibility criteria were included in the study. The DNA isolation was done using the QIAGEN Blood DNA isolation kit (Qiagen). The genotyping for POR *28 polymorphism was done using TaqMan genotyping master mix kits (Applied Biosystems) in real-time polymerase chain reaction platform. The data were analyzed using Fisher’s exact test. P < 0.05 was considered statistically significant. Hardy–Weinberg principle was tested using the Chi-square test. Results: The genotyping of the POR *28 showed that the wild-type (homozygous) in the south Indian population was 41.7% and heterozygous and mutant type as 47.2% and 11.1%, respectively. The allele frequency showed that the minor allele frequency (MAF) was 34.7% in the south Indian population. This distribution of allele frequency was found to be significantly different from that of African–Americans 0.191 (95% confidence interval 0.157, 0.231). It was not statistically significant when compared to Caucasians 0.264 (0.228, 0.304); Chinese 0.367 (0.319, 0.419); Mexicans 0.310 (0.265, 0.360); and Japanese 0.40 (0.339, 0.464). Conclusion: The frequency distribution of POR *28 genetic variant was established in the south Indian population. The MAF was found to be 34.7% which was significantly different from other major ethnic groups.