Abstract
ASSOCIATION OF COL4A1 (RS605143 AND RS565470) GENE POLYMORPHISM WITH CORONARY ARTERY DISEASES (CAD)

Apoorv Pankaj, Anu Chandra*, Tasleem Raza and Saliha Rizvi

ABSTRACT

CAD is one of the biggest cause of death around the world, with the number of people affected continually increasing. Increasing Incidence of CAD is a major concern not only in India but across the world. Genetic Polymorphism of many genes is associated with increased risk of various diseases in a particular ethnic group. This case control study was carried out to investigate the association of COL4A1 gene polymorphism with CAD. The study includes 25 angiographically proven CAD cases and 25 controls. Blood was collected in EDTA tube. Genomic DNA was extracted using phenol-chloroform extraction method (Sambrook J, 1989). Polymerase Chain Reaction(PCR) was done on extracted DNA. PCR product was digested with 5 U of restriction enzyme (Fermentas, UK). Statistical analysis was performed using SPSS 20.0 version. For SNP-1 rs605143 Frequency of COL4A1 AG, GG, AA genotype in CAD samples were 52%, 40%, 8% and in Control samples were 64%, 32%, 4% respectively. Frequencies of COL4A1 A and G alleles were 34% and 66% in CAD samples and 36% and 64% in control Samples. For SNP-2 rs 565470 Frequency of COL4A1 CT, CC, TT genotype in CAD samples were 60%, 12%, 28% and in Control samples were 52%, 16%, 32% respectively. Frequencies of COL4A1 C and T alleles were 42% and 58% in CAD samples and 42% and 58% in control Samples. Polymorphism of COL4A1 gene (rs605143, rs565470) was not associated with the risk of CAD (Statistically). For rs605143, frequency of A allele was significantly higher in Control subjects than in CAD patients which indicates that A allele of rs605143 is a protective factor for CAD while the frequency of G allele was significantly higher in CAD cases than controls suggesting it to be a risk factor for CAD. For rs565470, no significant difference was found between the allelic ratio of the case and the control samples.

Keywords: Coronary Artery Disease, COL4A1, Gene Polymorphism.


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