Association of rs146292819 Polymorphism in ABCA1 Gene with the Risk of Coronary Artery Disease in Pakistani Population.

Coronary artery disease (CAD) is an inflammatory heart disease characterized by the narrowing of coronary arteries. ATP-binding cassette transporter A1 (ABCA1) is a gene involved in regulation of cholesterol efflux and formation of high-density lipoprotein cholesterol (HDL-C). Present study aimed to explore the association of ABCA1 rs146292819 polymorphism with CAD development as well as its effect on serum lipid levels in the Pakistani population. Study subjects included 300 CAD patients and 300 age- and sex-matched healthy individuals. Methods involved genomic DNA extraction, amplification of rs146292819 polymorphism using allele-specific PCR, analyzing PCR product by agarose gel electrophoresis and determination of serum lipids. In this study, genotype frequencies of rs146292819 polymorphism in CAD patients were GG (43%), GT (27%), TT (30%) as compared to GG (25%), GT (31%), TT (44%) in healthy subjects. GG genotype increased the risk of developing CAD by 2.2326 times (OR 2.2326; 95% CI 1.5775-3.1597) and caused decrease in HDL-C levels by 2.6348 times. GT genotype was neither associated with CAD development (OR 0.8504; 95% CI 0.5974-1.2106) nor HDL-C levels. TT genotype lowered the risk of CAD development by 0.5381 times (OR 0.5381; 95% CI 0.3846-0.753) and protected from drop in HDL-C levels by 0.5086 times (OR 0.5086; 95% CI 0.3429-0.7544). It can be concluded that GG genotype of rs146292819 polymorphism and altered lipid profile act as risk factors in the pathogenesis of CAD in the Pakistani population.

Association of rs1800668 polymorphism in glutathione peroxidase- 1 gene and risk of rheumatoid arthritis in Pakistani population.

OBJECTIVE: To investigate the role of glutathione peroxidase 1 (GPX1) C/T polymorphism (rs1800668) in modulating the chances of Rheumatoid arthritis (RA) in Pakistani population. METHODS: A total of 400 individuals including 200 controls and 200 patients of RA, were genotyped. Detection of rs1800668 polymorphism was carried out using PCR based amplification strategy (allele specific). RESULTS: The results for Hardy Weinberg Equilibrium (HWE) indicated that the allele frequencies for GPX1 polymorphism were not deviant from HWE in whole population under observation. The statistical analysis indicated that significant association existed between rs1800668 polymorphism and RA (p<0.01). CT genotype increased the risk of RA development by 1.8582 times (OR: 1.8582; 95% CI 1.2154 to 2.8409). CC genotype was found to have protective effect against the disease development (OR: 0.5133; 95% CI 0.3403 to 0.7742) while TT genotype was found to have association with RA development but the risk level was marginal (OR: 1.5319; 95% CI 0.6124 to 3.8322). CONCLUSION: The present finding suggests the importance of GPX1 C/T polymorphism (rs1800668) in development of RA in Pakistani population. The protective role of CC genotype against the development of RA in local population was also observed.