Association of CT60 Polymorphism of the CTLA4 Gene with Graves' Disease in Taiwanese Children

Background The CTLA4 gene is involved in the activity of T cells. Aim To determine the association between Graves' disease (GD) susceptibility and CT60 polymorphism of the CTLA4 gene. Patients 189 children with GD and 620 healthy controls. Methods We determined the genotype with restriction fragment length polymorphism and compared results. Results Genotype G/G was significantly associated with GD (odds ratio [OR] = 1.71, 95% confidence interval [CI] 1.20-2.44, Pc = 0.006); however, allele A could reverse its effect. Allele G was significantly more frequent (OR = 1.61, 95% CI 1.18-2.19, Pc = 0.0049) but allele A (OR = 0.62, 95% CI 0.46-0.85, Pc = 0.0049) and phenotype A (OR = 0.58, 95% CI 0.41-0.83, Pc = 0.006) were less frequent in patients with GD than in controls. Conclusion The CT60 SNP was associated with susceptibility to GD. The G allele increased the risk of GD.