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

Abstract

Background: 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. Objectives: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. Materials and Methods: A total of 1015 subjects (490 diabetics and 525 healthy controls) were genotyped by PCR-RFLP and serum profiling was performed. Results: We could not detect the mutation in the study subjects, but the anthropometric and biochemical parameters were significantly different between the cases and controls. Conclusions: 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.