Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population

Abstract

Background: The protein coded by the cystathionine β synthase (CBS) gene acts as a catalyzer and converts homocysteine to cystathionine. Impairment of the CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms studies have been performed on the cystathionine β synthase gene. In the current study, we planned to analyze the influence of CBS T833C gene polymorphism(exon 8 cystathionine rs5742905T T>C), its association with Coronary Artery Disease development, and its progression in the north Indian population.

Materials and methods: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls. A total of 50% or more luminal stenosis at one major coronary artery was considered for the inclusion criteria of the cases. The investigation of T833C polymorphism in the CBS gene was performed by PCR- RFLP technique.

Results: As a result, we found that homozygous mutant (CC) and heterozygous (TC) genotypes of CBS T833C gene polymorphism were significantly higher in CAD patients than in healthy subjects. We also observed a substantially increased CAD risk in dominant, codominant inheritance, and allele-specific models for the CBS T833C gene polymorphism. We analyzed the differential distribution with respect to disease severity, but there was no significant association (p=0.96).

Conclusion: In conclusion, this study demonstrates that CBS T833C gene polymorphism plays a key role in developing coronary artery disease and its progression.

Keywords: Coronary artery disease (CAD); PCR-RFLP technique; cystathionine β synthase (CBS); heterozygous (TC).; homocystinuria; homozygous mutant (CC).