Frequencies of Genetic Polymorphisms of the Cholesterol and Statin Metabolic Pathway Genes among Healthy South Indian Tamil Population

Background: Indians are genetically predisposed to Coronary Artery Disease (CAD), hence it is worth studying the effect of genetic polymorphisms which affect CAD development including Low- Density Lipoprotein Cholesterol (LDL-C) in our population. Studies have found that there is a considerable variation in the genetic makeup of Indians with distinct genetic groups having been identified-one such being Dravidian Tamil population. Aim: We aimed to determine the distribution of allele and genotype frequencies of genes associated with LDL-C lipid levels as well as those associated with statin metabolic pathway in 100 healthy South Indian Tamil volunteers. Results: The minor allele frequencies (MAFs) of the genetic polymorphisms of HMGCR rs5908, rs17238540 and rs12916 were 0.5, 3.5 and 41% respectively. The MAF of LDLR rs688, CYP7A1 rs3808607, ABCB1 rs1128503, SLCO1B1 rs4149056 were 26, 42, 41.5 and 7% respectively. The frequencies of the genetic polymorphisms studied show considerable variation from other Indian ethnic groups in 5 out of the 7 genetic polymorphisms studied. Conclusion: Considerable variations in frequencies of genetic polymorphisms were found between Tamil population and other major ethnic populations worldwide with respect to HMGCR rs17238540 and LDLR rs688.