No association of Clotting Factor 5 gene mutation F5 A6755G (rs6027)  in angiographically demonstrated coronary artery disease among the Pakistani population

Objective: To determine the correlation of genetic polymorphisms of the clotting factor V gene rs6027 among individuals with angiographically diagnosed coronary artery disease (CAD). Methods: This case-control study was conducted from December 2022 to October 2023 at the National Institute of Cardiovascular Diseases, Hyderabad via non-probability consecutive sampling method, total of 200 participants was recruited including 100 angiographically confirmed CAD patients and 100 normal healthy controls. Peripheral blood samples were collected for DNA extraction and biochemical analysis including lipid panel, fasting blood sugar, and serum fibrinogen levels. Genotyping of FV rs6027 polymorphism was performed using amplification refractory mutation systempolymerase chain reaction (ARMS-PCR) technique. Genotype and allele frequencies were compared between CAD and control groups via Chi-square analysis. Logistic regression analysis was used to identify independent predictors of CAD. SPSS (version 25.0) was used for statistical analysis, p<0.05 was considered significant. Results: The socio-demographic profile showed no significant differences in age, gender, socioeconomic status, or educational level between the groups. CAD patients had significantly higher systolic and diastolic blood pressures, total cholesterol, LDL, VLDL, triglycerides, fasting blood sugar (FBS), and fibrinogen levels, while HDL was significantly lower compared to healthy controls (p<0.05 for all). The genotype distribution (AA, AG, GG) and allele frequencies of FV rs6027 showed statistically insignificant association with CAD (p=0.47). Multivariate logistic regression analysis demonstrated that elevated diastolic blood pressure (p=0.002), total cholesterol (p=0.008), and triglycerides (p<0.001) were independently associated with increased CAD risk. Conclusion: Factor V gene variant (rs6027) was not significantly associated with CAD in this Pakistani cohort. Traditional cardiovascular risk factors, particularly hypertension and dyslipidemia, remain the dominant determinants of CAD susceptibility.