Genetics of type 1 diabetes

Best Pract Res Clin Endocrinol Metab. 2001 Sep;15(3):279-91. doi: 10.1053/beem.2001.0146.


Type 1 diabetes mellitus is a T-cell-mediated autoimmune disease characterized by the selective destruction of pancreatic beta cells. Susceptibility to the disease is determined by a combination of genetic and environmental factors. The genetic factors are termed 'susceptibility genes' as they modify the risk of diabetes but are neither necessary nor sufficient for disease to develop. A large number of chromosomal regions have been identified as containing potential diabetes susceptibility genes. The IDDM1 locus, which encompasses the major histocompatibility complex on chromosome 6, is the major genetic risk factor. The HLA-DQ genes are the primary susceptibility genes within this region, although other genes may also contribute. The IDDM2 locus maps to a variable number of tandem repeats in the insulin gene region on chromosome 11. Further research is necessary to determine the precise location and identity of other diabetes susceptibility genes.

Publication types

  • Review

MeSH terms

  • Diabetes Mellitus, Type 1 / genetics*
  • Genetic Predisposition to Disease
  • HLA Antigens / genetics
  • HLA-DQ Antigens / genetics
  • Humans


  • HLA Antigens
  • HLA-DQ Antigens