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


avatar Paula Alvarez-VAzquez 1 , avatar Lourdes Constenla 2 , avatar RICARDO GARCÍA-MAYOR 1 , * , avatar Alejandra Larranaga 1 , avatar Diana Valverde 3

Endocrine, Diabetes, Nutrition and Metabolism Department, University Hospital of Vigo, Vigo, Spain
Biomedica Foundation . University Hospital of Vigo, Vigo, Spain
Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain

how to cite: Alvarez-VAzquez P, Constenla L, GARCÍA-MAYOR R, Larranaga A, Valverde D. Association of CTLA4 Gene Polymorphism with Ophthalmopathy of Graves’ Disease in a Spanish Population. Int J Endocrinol Metab. 2011;9(3):e94655. doi: 10.5812/Kowsar.1726913X.2613.


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.


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© 2011, International Journal of Endocrinology and Metabolism. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.