Intersection between genetic polymorphisms and immune deviation in type 1 diabetes

Purpose of reviewAbove 60 non-HLA genes have been associated with T1D, many of which are immune-related genes. One challenge following identification of these genes is finding causative connections between risk alleles and disease. Phenotypes linked to T1D-associated genetic variants are beginning to help us better understand the cellular and molecular mechanisms underlying T1D.Recent findingsThe list of immune-related genes with T1D-associated polymorphisms will be reviewed and cellular phenotypes correlating with these variants will be described highlighting recent finding from variants in the PTPN22 gene and genes encoding proteins in theIL-2/IL2R signaling pathway.SummaryBuilding from extensive genome-wide association studies, we are discovering cellular and molecular phenotypes that may help unravel the underlying causes of T1D.