The polymorphisms of TSHR and CTLA-4 genes as genetic predictors of susceptibility to Graves` ophthalmopathy.

PURPOSE: genes with susceptibility to Graves` ophthalmopathy among patients with Graves' disease. METHODS: A total of 187 patients with Graves' disease were divided into two groups: 87 with Graves` ophthalmopathy and 100 without. Clinical examination and thyroid function tests were performed for all patients with Graves` disease. The genotyping was performed by restriction fragment length polymorphism and allele-specific PCR methods. RESULTS: rs5742909 T and rs1054708 T alleles were frequent in the group with Graves` ophthalmopathy. By genotypic comparison, the T/T and C/T genotypes of rs5742909 and the T/T genotype of rs1054708 were significantly higher among patients with Graves` ophthalmopathy. In addition, we found more than additive interaction between rs5742909 and rs1054708 (RERI = 3.787, AP = 0.122, S = 1.16), and the patients who carrying T/T or C/T of rs5742909 and T/T of rs1054708 had significantly higher risk of Graves` ophthalmopathy (aOR = 8.77, 95% CI = 3.02-25.52; Power = 98.1%). CONCLUSIONS: This result indicates that rs5742909 of CTLA-4 and rs1054708 of TSHR genes are the genetic risk factors for Graves` ophthalmopathy. In addition, the combination of these polymorphisms might be used as genetic predictors of Graves' ophthalmopathy.