Purpose of review: Dissecting the genetics of complex polygenic diseases in which environmental factors interact with genetic variants in the predisposition to the disease has not been a trivial task and success has been limited. The purpose of this review is to provide insights into recent advances in genetics of type 2 diabetes.
Recent findings: In the past year, together the consortia of several genome-wide association studies for type 2 diabetes have identified 19 common variants increasing susceptibility to disease. Most novel loci seem to influence the capacity of beta-cells to increase insulin secretion in response to increase in insulin resistance or body weight. Combined genetic information ultimately might aid in personalized prediction of disease risk; however, genetic tests cannot be offered yet to predict disease. The main reason is that the increased risk associated with each risk variant is small. We have only begun to explore the role of rare variants with stronger effects or copy number variations in the pathogenesis of type 2 diabetes.
Summary: Rapid progress in the genetics of type 2 diabetes has significantly improved our understanding of disease pathogenesis and provided promising opportunities for drug discoveries over the coming years.