Open AccessInterleukin‐1‐β gene, but not the interleukin‐1 receptor antagonist gene, is associated with graves' disease
Author(s) -
Chen RongHsing,
Chen WenChi,
Chang ChwenTzuei,
Tsai ChangHai,
Tsai FuuJen
Publication year - 2005
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.20067
Subject(s) - taqi , exon , genotype , restriction fragment length polymorphism , gene , biology , interleukin 1 receptor antagonist , microbiology and biotechnology , gene polymorphism , allele , promoter , genetics , intron , receptor antagonist , gene expression , receptor , antagonist
Interleukin‐1 (IL‐1) is considered to be involved in the pathogenesis of Graves' disease. The aim of this study was to test whether the IL‐1‐β gene promoter region and exon 5 and IL‐1 receptor antagonist (IL‐1Ra) gene intron 2 polymorphisms could be useful genetic markers for susceptibility to Graves' disease. A normal control group of 163 healthy people and another group of 95 patients with Graves' disease were examined. Polymerase chain reaction (PCR) was used to analyze the variable number of tandem repeats (VNTRs) at intron 2 of the IL‐1Ra gene for the polymorphism. PCR‐based restriction analysis was done for the IL‐1‐β gene polymorphisms of the promoter region and exon 5 using endonucleases Ava I and Taq I, respectively. We found significantly increased frequencies of the C/C homozygous genotype (χ 2 test, P =0.038; odds ratio (OR)=2.558, 95% confidence interval (CI)=1.205–5.430) and the C allele (χ 2 test, P =0.011; OR=1.589, 95% CI=1.094–2.309) in the IL‐1‐β gene promoter (−511 C/T polymorphism) in Graves' disease patients compared to normal controls. There were no significant differences in polymorphisms of IL‐1‐β gene exon 5 and IL‐1Ra gene intron 2 between the patient and normal control groups. A subgroup analysis also demonstrated no association between the severity of the disease and any polymorphism of IL‐1‐related genes. We suggest that the IL‐1‐β gene promoter polymorphism can be used as a genetic marker for susceptibility to Graves' disease. It is worthwhile to study the cytokine genes further because of the association between cytokines and Graves' disease. J. Clin. Lab. Anal. 19:133–138, 2005. © 2005 Wiley‐Liss, Inc.