Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians.

Autor: Ferreira AC; Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil. alessandro@labhpardini.com.br, Gomes KB, Sampaio IB, Oliveira VC, Pardini VC, Godard AL
Jazyk: angličtina
Zdroj: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2009 Apr; Vol. 53 (3), pp. 368-73.
DOI: 10.1590/s0004-27302009000300012
Abstrakt: Introduction: Type 1A diabetes mellitus (T1ADM) is a multifactorial disease in which genetic and environmental aspects are important to its development. The association of genetic variations with disease has been demonstrated in several studies; however, the role of some gene loci has not yet been fully elucidated.
Objective: To compare the frequency of HLA alleles and polymorphism in CTLA-4 and insulin genes in Brazilians with T1ADM and individuals without the disease, as well as to identify genetic markers that are able to discriminate between diabetic and non-diabetic individuals.
Methods: The presence of HLA DQB1, DQA1 and DRB1 alleles, as well as the -2221 MspI polymorphism in the insulin gene and 49 A/G in the CTLA-4 gene were identified by the 'Time-resolved fluorometer' technique after hybridization with probes labeled with Eu (III) / Sm (III) and Tb (III).
Results: The DQB1 *0302 and DQA1 *03 alleles were identified as predisposed to T1ADM, and the DQB1 *0301 allele presented a protective effect against the disease.The DQA1 label proved to be able to differentiate between 71.13% of the diabetic and non-diabetic individuals.This value increased to 82.47% when the DQB1 label was added. No significant difference in the frequency of polymorphisms in the insulin and CTLA-4 genes was observed between the two groups.
Conclusions: The genetic markers that best characterized and discriminated diabetic and non-diabetic individuals were the HLA DQA1 and DQB1.alleles.
Databáze: MEDLINE