Association of CTLA4 and TNF gene polymorphisms with endocrine ophthahnopathy in ethnic Russian patients with Graves' disease

Aim. To analyze the associations of the rs3087243 CTLA4 polymorphism and the rs1800629 TNF polymorphism with endocrine ophthalmopathy (EOP) in ethnic Russian patients with Graves' disease (GD). Subjects and methods. The case-control study enrolled 205 patients with GD. The distribution of alleles and genotypes of the rs3087243 CTLA4 and rs1800629 TNF polymorphisms was studied in 141 patients with GD and EOP (a GD+EOP group) and 64 patients with GD without EOP (a GD-EOP group). The polymorphic alleles were identified by polymerase chain reaction-restriction fragment length analysis. Results. The patients with GD in their history and EOP had significantly higher frequencies of A allele and AA genotype and a lower proportion of G allele and GG genotype of the rs3087243 CTLA4 polymorphism. Comparative analysis revealed no significant differences in the frequency of the alleles and genotypes of the rs1800629 TNF polymorphism. Conclusion. The rs3087243 CTLA4 polymorphism is associated with the risk of EOP in ethnic Russian patients with GD.