Polymorphisms and genetic susceptibility of type 1 diabetes mellitus and celiac disease

Background Type 1 diabetes mellitus (T1D) is a chronic autoimmune disease characterized by pancreatic beta-cell destruction, hyperglycemia and progressive insulin deficiency, affecting mainly children and adolescents genetically predisposed. About 10% (2.4-16.4%) of T1D individuals develop celiac disease (CD), an immune-mediated enteropathy triggered by gluten exposure. Both diseases have a common autoimmune origin and share a similar genetic Background, the major histocompatibility complex class II antigen (HLA-DQ). Some genetic association studies have also identified susceptibility polymorphisms nonHLA associated to both diseases, located in different genes: RGS1 (rs2816316), IL2-IL21 (rs6822844), BACH2 (rs11755527) and IL18RAP (rs917997).