The Pro115Gln Missense Mutation of Peroxisome Proliferator Activated Receptor γ (PPARγ) Gene in Diabetes in the Pakistani Population

Diabetes is an alarmingly increasing public health concern. According to a World Health Organization (WHO) report, diabetes is highly prevalent in almost all regions of Pakistan, with an overall prevalence of 22.04% in urban and 17.15% in rural areas. In addition to lifestyle factors, genetics plays an important part in the progression to diabetes, of which peroxisome proliferator activated receptors (PPARs), a super-family of transcriptional regulators, are considered to be very critical. The aim of the current study was to investigate the prevalence of a missense mutation Pro115Gln in the PPARγ; gene in Pakistan and search for its effects on certain serum biochemical parameters. A total of 1015 subjects (490 diabetics and 525 healthy controls) were genotyped by PCR-RFLP and serum profiling was performed. We could not detect the mutation in the study subjects, but the anthropometric and biochemical parameters were significantly different between the cases and controls. In conclusion, as this mutation is present in a highly conserved region and any change in this region would adversely affect the protein structure and function, so the prevalence of this mutation is very low.