Association of CTLA4 Gene Polymorphism with Ophthalmopathy of Graves’ Disease in a Spanish Population

Background: Graves’ disease (GD) is an autoimmune disease that develops as a result of a complex interaction between genetic and environmental factors. Numerous studies have demonstrated the important role of CTLA₄ gene polymorphisms in the susceptibility to this disease. The CTLA₄ gene is located on chromosome 2q33 and codes for the T-cell receptor, which negatively modulates the immune response by disabling T cells.
Objectives: The aim of the present work was to determine whether A/G dimorphism at position +49 of exon 1 in the CTLA₄ gene contributes to the severity and clinical manifestations of GD.
Patients and Methods: We performed clinical and genetic studies on 100 Graves’ patients and 50 healthy controls. We determined the subjects’ genotypes for the +49 A/G polymorphism of the CTLA₄ gene by PCR and an enzyme restriction test. Comparison of individual clinical and laboratory variables between genotypes was performed using SPSS 17. 0 (SPSS, Chicago, IL, USA).
Results: We found a statistically significant relationship between CTLA₄ gene polymorphism and ophthalmopathy in Graves’ patients.
Conclusions: The +49A/G SNP of the CTLA₄ gene is related to the development of Graves’ disease; however, more studies are necessary to clarify the role of the CTLA₄ gene in influencing GD susceptibility and to explore other potential costimulation pathways in this disorder.