Association of CTLA-4 gene polymorphism with Graves' disease and ophthalmopathy in Iranian patients

Alireza Esteghamati, Omid Khalilzadeh, Zahra Mobarra, Mehdi Anvari, Maryam Tahvildari, Hoda Mojazi Amiri, Armin Rashidi, Ghasem Solgi, Kazem Parivar, Behrouz Nikbin, Aliakbar Amirzargar

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Background: The cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene, is one of the candidate genes for susceptibility to Graves' disease. This study aimed to investigate the association of Graves' disease and Graves' ophthalmopathy with polymorphisms at position + 49 in exon 1 and positions - 318 and - 1147 in the promoter region of CTLA-4 gene in Iranian patients. Methods: A total of 205 unrelated Iranian patients with Graves' disease who were referred to the outpatient endocrine clinic of a large university general hospital and 103 sex-matched healthy controls were included in this study. Venous blood was obtained, genomic DNA was extracted by a salting out method, and the polymorphisms at positions + 49, - 318 and - 1147 of the CTLA-4 gene were determined using the PCR-restriction fragment length polymorphism method (PCR-RFLP). Genotype and allele frequencies were determined. Results: The frequency of the G allele at position + 49 was significantly higher in patients with Graves' disease than in the control group (27.1% vs. 15.1%, OR = 2.096, 95%CI = 1.350-3.253 and p < 0.01). Significant trends were not seen for the other two polymorphisms studied. In patients with ophthalmopathy, the frequency of the G allele at position + 49 was higher than in those without ophthalmopathy (33.8% vs. 20.0%, OR = 2.043, 95%CI = 1.304-3.202 and p < 0.01). Conclusion: The results of this study suggest that the G allele at position + 49 in exon1 of the CTLA-4 gene is associated with Graves' disease and Graves' ophthalmopathy in Iranian patients.

Original languageEnglish (US)
Pages (from-to)424-428
Number of pages5
JournalEuropean Journal of Internal Medicine
Issue number4
StatePublished - Jul 2009

Bibliographical note

Funding Information:
This study was supported by a grant from the research committee of Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Copyright 2009 Elsevier B.V., All rights reserved.


  • CTLA-4 gene
  • Graves' disease
  • Graves' ophthalmopathy
  • Polymorphism


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