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Cardiovascular disease (CVD) has emerged as the most prevalent cause of death in India. Pro-protein Convertase Subtilisin/Kexin Type 9 ( PCSK9)  gene has been found to be associated with lipid levels and a biomarker for susceptibility of CVD. To study the association of  PCSK9  SNPs rs505151 &amp; rs562556 and their haplotypes with CVDs in the Indian population. The present study comprised of 102 angiographically proven CVD patients &amp; 100 healthy subjects. To study polymorphism, Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) method was used. Biochemical parameters were analysed by enzymatic methods or automated analysers. Haplotype analysis was done using SHEsis software. The dominant genetic model with an odds ratio (confidence interval) of 4.71 (2.59 − 8.5), ( p  value = .0001), shows the risk of CVDs. However, rs562556 (I474V) variant was not found to be associated with clinical parameters and risk of CVDs ( p  value &gt;.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137,  p  value = .0001). This study concludes that G allele of rs505151 SNP ( PCSK9)  and the H3 (G-A) haplotype of rs505151 &amp; rs562556 were found to be risk factors for CVDs in the Indian population.

Association study of PCSK9 SNPs (rs505151 & rs562556) and their haplotypes with CVDs in Indian population