Association of PPAR Gamma Gene Polymorphism; C161T with Diabetes in Population of Pakistan

Abstract

Diabetes mellitus is defined by an abnormally high blood glucose level. Insulin resistance, beta-cell dysfunction, and endogenous insulin production are all symptoms of type 2 diabetes, also known as Non-Insulin Dependent Diabetes Mellitus (NIDDM). With 38 million people, Asian Indians have a higher prevalence of diabetes. Many single nucleotide polymorphisms in the Peroxisome Proliferator Activated Receptor Gamma (PPAR-) gene play a role in the development of diabetes, either directly or indirectly. On exon 6 of the PPAR gamma gene, a silent mutation at position 161 convert the C allele into T allele. We obtained 926 individual samples from the local population, 500 were controls (fasting blood sugar < 99 mg/dL, random blood sugar < 126 mg/dL) and 426 were diabetes patients (fasting blood sugar > 99 mg/dL, random blood sugar > 126 mg/dL). In serum analysis lipid profiling was done that include TG, TC, LDL-C, HDL-C, and leptin. DNA was isolated and quantified; ARMS (amplification-refractory mutation system) PCR technique was used subsequently. The genotypic frequencies for CC, CT, and TT in diabetes patients are 66.66%, 20%, and 13.33%, respectively. Normal persons had genotype frequencies of 48.78%, 39.02%, and 12.19% for CC, CT, and TT, respectively. Minor allele frequency did not differ considerably between patients and controls (p-0.273). The patients and controls had considerably varied anthropometric and biochemical characteristics. To our knowledge, this is the first attempt to investigate such an association in the local population.