Genetic approach in personalized medicine in type 2 diabetes

Abstract

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disease characterized by hyperglycemia commonly associated with insulin resistance at high risk of renal, neurological and cardiovascular complications. It is defined as a multifactorial etiology disease where genetic predisposition and lifestyle play an important role in pathophysiology and onset. Recently, genome wide association studies (GWAS) have been widely used to identify deregulated expression of T2DM related genes and genetic risk factors that can contribute, together with environmental and behavior factors, to T2DM onset. Since its dual feature, anti-diabetic effective therapy need to acknowledge the genetic contribution to T2DM pathophysiology. The pharmacological treatment of T2DM depends on blood glucose levels and/or glycated hemoglobin (HbAc1): well-compensated patients with normal HbA1c levels are, generally, treated with oral hypoglycemic drugs, such as metformin, associated with a diet that limits carbohydrate intake. Conversely, the uncompensated patient, with high levels of HbAc1 is generally treated with insulin or other new generation drugs or a combination of them. Given the multifactorial nature of T2DM, recent studies have identified personalized therapy as a powerful means to refine the effectiveness of the therapy itself, paving the way for precision medicine.