الفهرس 
Chapter 1: Type 1 Diabetes MellitusOnly 14 pages are availabe for public view
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Abstract
Type-1 diabetes mellitus (T1DM) is a progressive complex autoimmune disease in which combinations of environmental as well as genetic factors contribute to T-cell mediated destruction of insulin-secreting β-cells of the pancreas. The (CTLA-4) encodes of the T cell receptor involved in the control of T cell proliferation and mediates T cell apoptosis. The contribution of CTLA-4 gene variants to type 1 diabetes has been analyzed in several ethnic groups. The aim of this Cross sectional, case-control study was to investigate the association of CTLA-4 gene exon 1 49 A/G polymorphism, with T1DM in children and its relation to diabetic complications. Subjects and methods: A total of 100 subjects were included in the study, those subjects were classified into two groups. Fifty children with T1DM aged 10-18 years (12.5±2.0 years), and fifty healthy age and sex matched children as a control group. All candidates were subjected to full clinical evaluation and anthropometric measurements. All the patients had the following laboratory investigation been done (RBG, average HbA1c, Quantitative determination of urinary microalbumin). CTLA-4 gene polymorphism PCR-RFLP was done for all the subjects included in the study.Results: In the current study, CTLA-4 genotyping among the diabetic group was: the mutant homozygous genotype GG in 15(30%), the mutant heterozygous genotype AG in 29(58%) and wild homozygous genotype AA in 6(12%). However, among the control group: it was 3(6%) with GG genotype, 19(38%) with AG genotype and 28(56%) with AA genotype with P value < 0.001 which denoting a higher prevalence of AG and GG genotype in diabetic group with highly statistical significance. There was a significant association between CTLA-4 mutant genotypes and patients with younger age of onset of diabetes (P=0.011) and higher dose of insulin (P=0.002). CTLA-4 +49 mutant genes did not have any impact on complications of type 1 diabetes. Neither has it shown an impact on HbA1c. Conclusion: The results of the present study shows that the CTLA-4 A/G +49 polymorphism was associated with type 1 diabetes in Egyptian children with a significant association between CTLA-4 mutant genotypes and patients with younger age of onset of diabetes and higher dose of insulin. However, this polymorphism did not have any impact on complications of type 1 diabetes.