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Updated: Aug 12, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association study of PCSK9 SNPs (rs505151 & rs562556) and their haplotypes with CVDs in Indian population
Kiran Devi1, Archna Bhargave1, Imteyaz Ahmad1
1Department of Biochemistry, Kurukukshetra University, Kurukshetra, India.
Background:
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.
Aim:
To study the association of PCSK9 SNPs rs505151 & rs562556 and their haplotypes with CVDs in the Indian population.
Subjects & Methods:
The present study comprised of 102 angiographically proven CVD patients & 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.
Results:
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 >.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137, p value = .0001).
Conclusion:
This study concludes that G allele of rs505151 SNP (PCSK9) and the H3 (G-A) haplotype of rs505151 & rs562556 were found to be risk factors for CVDs in the Indian population.
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