No association of INS-VNTR genotype and IAA autoantibodies

Ann N Y Acad Sci. 2004 Dec:1037:127-30. doi: 10.1196/annals.1337.020.

Abstract

Type 1 diabetes is associated with autoimmune responses against insulin, with insulin autoantibodies (IAA) being a hallmark of the disease. Genetic susceptibility to type 1 diabetes is polygenic and includes the INS VNTR-IDDM2 locus, which has been shown to regulate the expression of insulin in the pancreas and thymus. In order to determine whether insulin autoimmunity could be attributed to a genetic susceptibility conferred by the INS-VNTR (IDDM2) locus, we studied the frequency of INS-VNTR alleles and the presence of IAA in 90 patients with new-onset type 1 diabetes. IAA were detected in 49 of 67 class I/I individuals and 19 of 23 class III/X patients, indicating that there is no association between the INS VNTR-IDDM2-susceptible allele and humoral autoimmunity against insulin. This finding does not support the hypothesis of an allele-specific tolerance induction that could determine susceptibility toward autoimmunity against the insulin protein and subsequently the development of type 1 diabetes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Autoantibodies / blood*
  • Autoimmunity
  • Case-Control Studies
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / classification
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 1 / immunology*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype*
  • Humans
  • Immunity, Cellular / immunology
  • Insulin / genetics
  • Insulin / immunology*
  • Islets of Langerhans / immunology*
  • Male
  • Spain

Substances

  • Autoantibodies
  • Insulin