Arquivos Brasileiros de Endocrinologia & Metabologia
versión On-line ISSN 1677-9487
SILVA, Maria Elizabeth Rossi da; MORY, Denise y DAVINI, Elaine. Genetic and humoral autoimmunity markers of type 1 diabetes: from theory to practice. Arq Bras Endocrinol Metab [online]. 2008, vol.52, n.2, pp.166-180. ISSN 1677-9487. http://dx.doi.org/10.1590/S0004-27302008000200004.
Type 1 A diabetes mellitus (T1AD) results from the autoimmune destruction of the insulin producing pancreatic beta-cells. The largest contribution to genetic susceptibility comes from several genes located in the major histocompatibility complex on chromosome 6p21.3 (IDDM1 locus), accounting for at least 40% of the family aggregation of this disease. The highest-risk human leukocyte antigen HLA genotype for T1AD is DR3-DQA1*0501-DQB1*0201/DR4-DQA1*0301-DQB1*0302, whereas -DR15-DQA1*0102-DQB1*0602 haplotype is associated with dominant protection. Three other T1D loci associated with predisposition are the Variable Number for Tandem Repeats (VNTR) near the insulin gene (IDDM2), which accounts to 10% of genetic susceptibility, the Cytotoxic T-Lymphocyte-associated Antigen (CTLA-4)(IDDM 12) and the Protein Tyrosine Phosphatasis Nonreceptor-type 22 (PTPN22). Many other gene suspected to predispose to autoimmunity have been investigated. T1AD is frequently associated with autoimmune thyroid disease, celiac disase, Addison´s disease and many other autoimmune diseases, characterized by organ-specific autoantibodies and related to the same genetic background. Using these autoantibodies, organ specific autoimmunity may be detected before the development of clinical disease preventing significant morbidity.
Palabras clave : Type 1 A diabetes; Genes; Autoimmunity; Markers.