Objective: This study aimed to investigate the impact of the Apo E polymorphisms on plasma lipid profile and to identify the polymorphism of the apo-E gene as genetic predictor of calcific AS in Pakistani population.
Methodology: This was a case control study conducted in Dow University of Health Sciences and National Institute of Cardiovascular Disease, Karachi. It included total of 100 individuals, 50 echocardiographically identified calcific AS cases and 50 age and gender matched controls. Apo E allele frequencies were computed, lipid profiles were estimated and Apo E gene polymorphism was identified by the techniques of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
Result: Apo E 2, 3, and 4 allele frequencies were 16%, 52%, and 32% in calcific AS cases, and
10%, 52%, 28% in controls respectively (p=0.622). Out of 50 cases, 18% presented with mild AS, 22% moderate AS and 60% lied in severe calcific AS. It was observed that levels of total cholesterol (TC), triglyceride (TG) and low-density lipoprotein (LDL) were higher in Apo E4 allele as compared to other genes in both cases and control.
Conclusion: The findings of this study suggested that Apo E4 allele of Apo E gene is an impotent risk factors for dyslipidemia while Apo E4 allele is not associated with calcific AS contemplates distinctive genetic backgrounds of CAD and AS.
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