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 North Indian Population

Background: The protein coded by cystathionine β synthase (CBS) gene act as a catalyzer, converts homocysteine to cystathionine. Impairment of CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms study have been performed in cystathione β synthase gene. In the current study we planned to analyze the influence of CBS T833C gene polymorphism and its association with Coronary Artery Disease development and its progression in the north Indian population. Materials and method: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls. A ≥ 50% 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. Result: In result, we found that homozygous mutant (CC ) and heterozygous (TC) genotypes of CBS T833C gene polymorphism, were significantly higher in CAD patients as compared to healthy subjects. We also observed a substantial increased CAD risk exists 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.