Polymorphic Variant rs11206510 in PCSK9 and Risk of Coronary Artery Disease in Bulgarians

Abstract Objective The aim of this study was to investigate the potential association of rs11206510 in PCSK9 gene with coronary artery disease (CAD) and myocardial infarction (MI) in Bulgarians. Materials and Methods The current analysis included 261 patients with angiographically documented CAD (153 with MI and 108 without MI) and 496 population – based controls. Genomic DNA was extracted from venous blood samples. The selected polymorphism was genotyped by TaqMan SNP Genotyping Assay. The genotype and allele frequencies were compared between cases and controls using χ2 test. Results In this study, the presence of the T allele of rs11206510 in the PCSK9 gene was found to be associated with elevated risk for MI in patients with already existing myocardial ischemia (allele T, OR1.78,CI95:1.16-2.73, p = 0.007). The result was enhanced in the male subgroup (allele T, OR1.74, CI95:1.02-2.96, p = 0.038). Also, we found reduced risk of CAD (without MI) for T allele (OR0.70, CI95:0.49-0.99, p = 0.04). This trend was stronger in the male subgroup (OR0.56, CI95:0.35-0.90, p = 0.02). There was not any relationship of the studied genetic variant with the levels of total cholesterol, triglycerides, low density lipoproteins and high-density lipoproteins, or with systolic and diastolic blood pressure values. Conclusion Our study found a difference in the frequencies of rs11206510 genotypes and alleles in the PCSK9 gene between cases and controls, and the relationship of the investigated polymorphism to the risk of cardiac injury in the Bulgarian population was demonstrated. Further investigations with a larger number of cases and controls will be needed in order to evaluate a possible association between this variant and CAD/MI in Bulgarians.