The Impact Of Rs2066715 And Rs2230808 Polymorphisms In ABCA1 Gene With The Risk Of Diabetes And Coronary Artery Disease In North Indians

Abstract

Background: Polymorphisms in the ABCA1 gene are linked to lipid metabolism, insulin resistance, and cardiovascular disease. This study assessed the correlation between ABCA1 rs2066715 and rs2230808 polymorphisms and Type 2 Diabetes Mellitus (T2DM), Coronary Artery Disease (CAD), and T2DM with CAD in a North Indian cohort.

Material and Method: A total of 600 participants were separated into four groups: healthy controls, T2DM, CAD, and T2DM with CAD patients (150 each). Clinical and biochemical data were analyzed. The rs2066715 and rs2230808 polymorphisms were genotyped using the PCR-RFLP method. The statistical analysis was carried out with SPSS version 31.

Result: T2DM, CAD, and T2DM with CAD patients had significantly higher FBG, TC, TG, LDL-C, HbA1c, blood pressure, and fasting insulin levels, but HDL-C levels were significantly lower (p < 0.05). There was no significant connection between the rs2066715 polymorphism and illness susceptibility. However, the rs2230808 polymorphism was significantly associated with T2DM, CAD, and T2DM with CAD. The A allele and TA+AA genotypes were linked to higher disease risk and a poor lipid profile. Haplotype study found that the CT haplotype is protective, whereas the CA and TA haplotypes enhance disease risk.

Conclusion: The ABCA1 rs2230808 polymorphism may serve as an important genetic marker for T2DM and CAD susceptibility in the North Indian population.