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Graves' ophthalmopathy and gene polymorphisms in interleukin‐1α, interleukin‐1β, interleukin‐1 receptor and interleukin‐1 receptor antagonist
Author(s) -
Khalilzadeh Omid,
Anvari Mehdi,
Esteghamati Alireza,
Mahmoudi Mahdi,
Tahvildari Maryam,
Rashidi Armin,
Khosravi Farideh,
Amirzargar Aliakbar
Publication year - 2009
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2009.02093.x
Subject(s) - single nucleotide polymorphism , medicine , genotype , odds ratio , interleukin 1 receptor antagonist , interleukin , receptor antagonist , pathogenesis , allele , immunology , allele frequency , receptor , cytokine , genetics , gene , antagonist , biology
A bstract Purpose: Interleukin‐1 (IL‐1) is known to have an important role in pathogenesis of Graves' ophthalmopathy (GO). Polymorphisms in IL‐1 gene have been associated with autoimmune reactions. This study aimed to investigate the association of GO with single‐nucleotide polymorphisms (SNPs) in the IL‐1 family (IL‐1α, IL‐1β, IL‐1 receptor [IL‐1R] and IL‐1 receptor antagonist [IL‐1RA]). Methods: A total of 57 patients of Graves' disease without GO, 50 patients with GO and 140 healthy controls were enrolled. Patients were recruited consecutively from the outpatient endocrine clinic of a large university general hospital. Cytokine typing was performed by the polymerase chain reaction with sequence‐specific primers assay. The allele and genotype frequencies of the following polymorphisms were determined: IL‐1α (−889C/T), IL‐1β (−511C/T), IL‐1β (+3962C/T), IL‐1R (Pst‐1 1970C/T) and IL‐1RA (Mspa‐1 11100C/T). Genotype distributions among patients were in Hardy–Weinberg equilibrium for all polymorphisms. Results: Among the five SNPs studied, the frequencies of the T allele and the TT genotype of IL‐1α (−889C/T) were significantly higher among patients with GO than those without GO (odds ratio [OR] = 2.16, 95% confidence interval [CI] = 1.25–3.74; P = 0.006 and 5.67, 95% CI = 1.66–49.34; P = 0.005, respectively). For IL‐1RA (Mspa‐1 11100C/T), the frequencies of the C allele and the CC genotype were significantly higher among patients with GO (OR = 2.31, 95% CI = 1.34–4.00; P = 0.004 and 6.73 95% CI = 1.94–23.36; P = 0.004, respectively; P < 0.01). No significant association was found for other SNPs. Conclusion: This is the first study to show a positive correlation between polymorphisms in the IL‐1α and IL‐1RA genes and susceptibility to GO. These findings promote further research into genetic correlates of GO.