ABSTRACT
We investigated whether the C-819T SNP of the CTLA4 gene is associated with Type 1 diabetes [T1D] for the Egyptian population, a multi-ethnic group. We determined if expression of the C-819T SNP correlated with onset of T1D for Egyptian children and the prevalence of this polymorphism with respect to gender. The association of the C-819T SNP in intron 1 of the CTLA-4 gene with T1D was investigated in 396 Egyptian patients 24 years old, with a similar ratio of males to females in both groups. The diagnosis of T1D was made based on ketoacidosis or ketosis with severe symptoms of acute onset at presentation and continuous dependence on insulin. Controls were negative for anti-GAD antibodies and were greater than 24 years of age. Genotyping was performed using single strand conformation polymorphism [SSCP], temperature gradient gel electrophoresis [TGGE], polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP], and reverse dot blot [RDB]. The results demonstrated an association of the C-819T SNP in the CTLA-4 gene with T1D patients [P= 0.0096]. This association was more pronounced in children