Genetics
CETP c.*84G>A variant doubles coronary artery disease risk in South Indian patients (PLoS One 2016)
Original title: c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians
Sequencing the CETP gene in 323 South Indian coronary artery disease (CAD) patients and 300 matched controls, researchers identified 13 variations, including the 3' UTR variant rs1801706 (c.*84G>A), which was significantly associated with CAD (genotype test: OR = 2.16, 95% CI, 1.50-3.10, p = 1.88x10-5; allelic test: OR = 1.92, 95% CI, 1.40-2.63, p = 2.57x10-5). The mutant A allele was associated with higher CETP mRNA concentration (p = 7.09x10-3, R2 = 0.029, beta = 0.2163) and was more frequent in patients than controls (22.69% versus 13%). Since higher CETP expression has been linked to CAD risk, the findings identify c.*84G>A as a risk factor for CAD in this South Indian population, the first report of CETP variation in this group.
Original abstract
Background: Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
Methods: We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Results And Discussion: Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
Conclusions: This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.