Genetics
Combining three CETP polymorphisms predicts lipid profile better than any single variant in South Indians (Clin Chim Acta 2007)
Original title: Common variants of Cholesteryl ester transfer protein gene and their association with lipid parameters in healthy volunteers of Tamilian population
Researchers genotyped three CETP polymorphisms (TaqIB, -629C/A, I405V) in 171 healthy Tamilian volunteers from South India to characterize their prevalence and lipid associations, previously undocumented in this population. Allele frequencies were 0.51 for TaqIB B1, 0.36 for -629C/A C, and 0.47 for I405V I, with B2 and A alleles more frequent in Tamilians than other major ethnic groups and the V allele frequency intermediate between Caucasians and African Americans. Individually, none of the three polymorphisms showed significant overall lipid associations, though a gender subgroup analysis found higher HDL-C in men with the B2B2 genotype and lower triglycerides with B1B2. As the number of mutant genotypes across the three polymorphisms increased, LDL-C, HDL-C, and total cholesterol rose while triglycerides fell, significantly more so than with any individual polymorphism. The authors conclude the combination of these three CETP variants predicts lipid profile better than any one alone in this population.
Original abstract
Background: Cholesteryl ester transfer protein (CETP) is involved in a key pathway of reverse cholesterol transport implicated in atherosclerosis and coronary heart disease. CETP gene is known to have many single nucleotide polymorphisms which have been associated with CETP activity and plasma high density lipoprotein cholesterol (HDL-C) concentrations. No data on the prevalence of these polymorphisms and their phenotypic association is available in South Indian population.
Methods: Three CETP polymorphisms: TaqIB, -629C/A and I405V were studied in 171 healthy volunteers from Tamilnadu, a major population of South India. Subjects were clinically examined and lipid profile was estimated. Genotyping was performed by PCR-RFLP and genotype frequencies estimated.
Results: The allele frequencies of TaqIB: B1 allele was 0.51; -629C/A: C allele was 0.36; and that of I405V: I allele was 0.47. Study of association between these three polymorphisms and plasma lipid concentrations revealed no significant differences in lipid parameters between genotypes. A gender based subgroup analysis revealed a significant increase in HDL-C in men with B2B2 genotype and decrease in TG in B1B2 genotype. Analysis of the combined effect of multiple mutant genotypes revealed that as the number of mutant genotypes increased, the concentrations of low density lipoprotein-cholesterol (LDL-C), HDL-C and total cholesterol (TC) increased whereas that of triglyceride (TG) decreased in the group of three mutant genotypes significantly.
Conclusion: The frequency of B2 and A alleles of TaqIB and -629C/A polymorphisms were highest in Tamilian population when compared to other major ethnic groups while that of V allele of I405V polymorphism is between Caucasians and African Americans. Taq1B polymorphism was associated with HDL-C and TG concentrations only in men. Combination of these three polymorphisms was significantly associated with lipid profile than the individual polymorphisms.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.