c.*84G>A Mutation in <i>CETP</i> Is Associated with Coronary Artery Disease in South Indians

<div><p>Background</p><p>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 (<i>CETP</i>) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the <i>CETP</i> gene variations in CAD patients of South Indian origin.</p><p>Methods</p><p>We sequenced all the exons, exon-intron boundaries and UTRs of <i>CETP</i> in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in <i>CETP</i> were subjected to various statistical analyses.</p><p>Results and Discussion</p><p>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<sup>-5</sup> and allelic association test: OR = 1.92, 95% CI: 1.40–2.63, p = 2.57x10<sup>-5</sup>). Mutant allele “A” was observed to influence the higher concentration of mRNA (p = 7.09×10<sup>−3</sup>, R<sup>2</sup> = 0.029 and β = 0.2163). Since expression of <i>CETP</i> has been shown to be positively correlated with the risk of CAD, higher frequency of “A” allele (patients: 22.69% <i>vs</i>.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.</p><p>Conclusions</p><p>This is the first report of the <i>CETP</i> gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.</p></div>