Molecular genetics of autoimmune diabetes / 中华医学遗传学杂志

ABSTRACT

Autoimmune diabetes is a T cell-mediated disease characterized by the autoimmune destruction of pancreatic β-cells and insulin deficiency. It is related to multiple genes. The IDDM1 locus, which lies within the human leukocyte antigen (HLA) and the IDDM2 locus, which is located to the insulin gene region, are two major genetic contributors of susceptibility. Many other loci conferring susceptibility to autoimmune diabetes are being discovered, including PTPN22, CTLA4, IL2RA and IFIH1. In this article, these loci and their possible immunologic mechanisms involved in the pathogenesis of this disease will be reviewed.