TY - JOUR
T1 - Association of CTLA-4 gene polymorphism with Graves' disease and ophthalmopathy in Iranian patients
AU - Esteghamati, Alireza
AU - Khalilzadeh, Omid
AU - Mobarra, Zahra
AU - Anvari, Mehdi
AU - Tahvildari, Maryam
AU - Amiri, Hoda Mojazi
AU - Rashidi, Armin
AU - Solgi, Ghasem
AU - Parivar, Kazem
AU - Nikbin, Behrouz
AU - Amirzargar, Aliakbar
N1 - Funding Information:
This study was supported by a grant from the research committee of Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Copyright:
Copyright 2009 Elsevier B.V., All rights reserved.
PY - 2009/7
Y1 - 2009/7
N2 - 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.
AB - 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.
KW - CTLA-4 gene
KW - Graves' disease
KW - Graves' ophthalmopathy
KW - Polymorphism
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U2 - 10.1016/j.ejim.2008.12.005
DO - 10.1016/j.ejim.2008.12.005
M3 - Article
C2 - 19524188
AN - SCOPUS:67349170759
SN - 0953-6205
VL - 20
SP - 424
EP - 428
JO - European Journal of Internal Medicine
JF - European Journal of Internal Medicine
IS - 4
ER -