title: No association of INS-VNTR genotype and IAA autoantibodies.
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.
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital de Cruces, Plaza de Cruces s/n, Barakaldo E48903 Bizkaia, Spain.
authors.forename: Guiomar
authors.initials: G
authors.lastname: Pérez de Nanclares
authors.forename: J Ramón
authors.initials: JR
authors.lastname: Bilbao
authors.forename: Luis
authors.initials: L
authors.lastname: Castano
mesh_terms: D000293:Adolescent; D000483:Alleles; D001323:Autoantibodies / Q000097:blood*; D015551:Autoimmunity; D016022:Case-Control Studies; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000145:classification / Q000235:genetics / Q000276:immunology*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007111:Immunity, Cellular / Q000276:immunology; D007328:Insulin / Q000235:genetics / Q000276:immunology*; D007515:Islets of Langerhans / Q000276:immunology*; D008297:Male; D013030:Spain
chemical_list: D001323:Autoantibodies; D007328:Insulin