Clinical detail of individuals included in the study.

<p>Clinical detail of individuals included in the study.</p

Observed variations and its location in <i>CETP</i> gene.mRNA.

<p>ENST00000200676 was utilized to represent the physical location of variants.</p

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^-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 <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

SNPs present within ±10kb of <i>CETP</i> and their respective association p-value with normalized mRNA expression level.

<p>Only rs1801706 (c.*84G>A) was significantly associated and highlighted in bold.</p

Frequency spectrum of allele and genotype of rs1801706/ c. *84G>A in case, control and different world populations.

<p>Frequency spectrum of allele and genotype of rs1801706/ c. *84G>A in case, control and different world populations.</p

Sequence of primers used to amplify exons and exon-intron boundaries of <i>CETP</i> gene.

<p>Annealing temperature of all the 12 set of primers are 60°C.</p

Expression data of <i>CETP</i> in HapMap population according to their genotype.

<p>Middle bar represents the mean value of expression while flanking bar represents their standard deviation.</p