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Graves' ophthalmopathy and gene polymorphisms in interleukin-1alpha, interleukin-1beta, interleukin-1 receptor and interleukin-1 receptor antagonist.

Authors: Khalilzadeh, O  Anvari, M  Esteghamati, A  Mahmoudi, M  Tahvildari, M  Rashidi, A  Khosravi, F  Amirzargar, A 
Citation: Khalilzadeh O, etal., Clin Experiment Ophthalmol. 2009 Aug;37(6):614-9. doi: 10.1111/j.1442-9071.2009.02093.x.
Pubmed: (View Article at PubMed) PMID:19702713
DOI: Full-text: DOI:10.1111/j.1442-9071.2009.02093.x

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-1alpha, IL-1beta, 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-1alpha (-889C/T), IL-1beta (-511C/T), IL-1beta (+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-1alpha (-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-1alpha and IL-1RA genes and susceptibility to GO. These findings promote further research into genetic correlates of GO.

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RGD Object Information
RGD ID: 8549808
Created: 2014-04-08
Species: All species
Last Modified: 2014-04-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.