Abstract
Individual predisposition to type 2 diabetes is influenced by the combination of genetic variants, environmental exposures, behaviour and chance. Human genetics offers a method to identify specific genetic variants that influence disease risk and thereby the pathways and mechanisms through which they operate. These pathways provide a powerful lens through which to develop biological insights into metabolism and disease and have the potential to inform diagnosis and treatment. Indeed, this potential is already being realised in precision medical management of monogenic and syndromic forms of diabetes. While substantial progress has been made identifying genetic variants for the common, multifactorial forms of type 2 diabetes, major challenges remain before we gain insight and translational benefit. The difficulty derives from the genetic architecture of type 2 diabetes and other common diseases, which involves a large number of variants of modest effect, many non-coding and presumably regulatory in nature. The ability to define more complete individual inventories of genetic risk and environmental exposure is only a start towards understanding the complex molecular pathophysiology that underlies disease, understanding that will support the development of integrative readouts that track causal pathogenetic mechanisms and the invention of new therapies that restore homeostasis through these pathways.
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