Association of ACACB gene polymorphism (rs2268388, G > A) with type 2 diabetes and end stage renal disease in Pakistani Punjabi population

Abstract The Acetyl-CoA Carboxylase Beta (ACACB) is a regulator of fatty acid metabolism. A SNP (rs2268388, G > A) in this gene has been recently associated with diabetes, diabetic nephropathy, obesity as well as metabolic syndrome in some populations. Therefore, the aim of present study was to test this SNP for its association with diabetes and end stage renal disease (ESRD) in Pakistani Punjabi patients. For this case-control study, a total of 206 subjects comprising of four groups (controls, type 2 diabetics, type 2 diabetics with ESRD, and non-diabetics with ESRD) were genotyped for rs2268388 (G > A) using real time PCR based TaqMan Assay. Using statistical analysis, it was found to be associated with type 2 diabetes as OR (95% CI): 2.54 (1.18–5.46), p  = 0.01. The BMI of the persons having AA genotype was found to be raised ( p  = 0.009) as compared to persons having GA and AA genotypes. We found that this SNP rs2268388 (G > A) is significantly associated with type 2 diabetes and obesity in Pakistani Punjabis, which may have implications for the management of diabetes in the target population.