Diabetes grounds from multiple factors, often commencing from the link of various environmental and genetic elements. Around 90 percent of the total diabetic cases belong to Type 2 diabetes. Polymorphisms in numerous genes significantly contribute towards the onset of diabetes. ATP- Binding Cassette Transporter (ABCA1) gene variations presumably play a function in the progress of diabetes. This present study was done in a selected population from Islamabad to see the rs 2230808 polymorphisms in ABCA1 gene and find out its associations torisk of Diabetes. Genotyping of ABCA1 gene was conducted through Tetra-Primer (ARMS- PCR) and Gel electrophoresis against 45 Type 2 Diabetic patients and 49 controls. The genotypes for polymorphisms followed Hardy-Weinberg Equilibrium. Homozygous CC genotype was seen in 53.3 % patients (n=24) and in 46.9 % of controls (n=23). Percentage of heterozygous CT genotype was relatively higher in controls 38.7% (n=19) and in patients it was 31.1% (n=14). The homozygous genotype TT was considerably similar in both patients (15.5 % ) and controls (14.2%). Our results showed non-significant relationship of the respective SNP and the possibility of developing Diabetes.
More studies with a larger population size need to be conducted to further validate our results and find any further possible association of this SNP with Type 2 diabetes mellitus.