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

Autor: Kiran Devi, Archna Bhargave, Imteyaz Ahmad, Anita Yadav, Ranjan Gupta
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Annals of Human Biology, Vol 50, Iss 1, Pp 56-62 (2023)
Druh dokumentu: article
ISSN: 0301-4460
1464-5033
03014460
DOI: 10.1080/03014460.2023.2171121
Popis: 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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