Type 1 diabetes mellitus is characterized by loss of the insulin-producing beta cells of the islets of Langerhans in the pancreas leading to insulin deficiency. While type 2 diabetes mellitus is characterized by insulin resistance which may be combined with relatively reduced insulin secretion. The defective responsiveness of body tissues to insulin is believed to involve the insulin receptor. It is also most common type of diabetes. Type 2 diabetes has also been loosely defined as “adult onset” diabetes. As diabetes becomes more common throughout the world, cases of T2D are being observed in younger people. The majority of individuals with type 2 diabetes are either overweight

or obese. WHO predicts that by 2025, the number PS-341 manufacturer of diabetic people will increase to 300 million. The genes involved in this disease are poorly defined. Many genes are thought to

be involved in type 2 diabetes. These genes may show subtle variation in the gene see more sequence and may be extremely common. Many genetic variants have been convincingly and repeatedly found to associate with the disease, each of which confers only a small increase in risk, making causality difficult to prove and also limiting the prognostic and diagnostic potential of these individual variants.1 Type 2 diabetes (T2D) has long been attributed to a complex interaction between an individual’s genetic background and multiple environmental factors. The genetic contribution has been confirmed by twin, family and population studies. Dissecting the genetic architecture of a complex disease such as T2D is a rather challenging task. The genetic variants detected, represent common variants shared by a large number of individuals but with modest effects. Each risk GBA3 allele increases risk of T2D only by a small percentage. Profiling genetic variation aims to

correlate biological variation (phenotype) with variation in DNA sequences (genotype). The ultimate goal of mapping genetic variability is to identify the single-nucleotide polymorphism (SNP) causing a monogenic disease or the SNPs that increase susceptibility to a polygenic disease. Approximately 10–12 SNP markers in genes like IGF2BP2, CDKAL1, TCF7L2 and PPRG have been used worldwide to determine the risk factor of T2D.2 Genes significantly associated with developing T2D, include TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX and KCNJ11.3, 4, 5 and 6 In this study, 4 prominent mutations spanning across 4 genes were investigated for their link with diabetic condition in Western Indian resource population namely Insulin Hormone (INS), Insulin Receptor (INSR), Transcription factor 7-like 2 (TCF7L2) and peroxisome proliferator-activated receptor-gamma (PPARG). The study subjects were a part of an ongoing insulin resistance study being undertaken by Department of Life Sciences, University of Mumbai in association with Medical Genetics Study Centre, geneOmbio Technologies, India.