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Proinflammatory cytokine gene polymorphisms among Hashimotos thyroiditis patients

机译:桥本甲状腺炎患者的促炎细胞因子基因多态性

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摘要

Proinflammatory cytokines are involved in the pathogenesis of Hashimoto's thyroiditis (HT). To test whether certain specific proinflammatory cytokine gene polymorphisms could be genetic markers for an individual's susceptibility to HT, we investigated single‐site polymorphisms of certain proinflammatory cytokine genes of interest for 107 HT sufferers and 163 controls, subsequent to preparing the necessary experimental genomic DNA from peripheral blood, using a polymerase chain reaction (PCR)‐based restriction analysis. The polymorphisms we detected were as follows: 1) C/T and E1/E2 polymorphisms for the interleukin (IL)‐1β gene at promoter (−511) and exon 5, respectively; 2) a variable number of tandem repeats (VNTRs) for the IL‐1 receptor antagonist (IL‐1Ra) gene at intron 2; 3) a C/G polymorphism for the IL‐6 gene at promoter (−572); and 4) an A/G polymorphism for the tumor necrosis factor (TNF)‐α gene at promoter (−308). The data demonstrated an increased ratio of CG genotype and decreased ratios of CC and GG genotypes (chi‐squared test; = 0.025) for the IL‐6 gene promoter for HT patients when compared with normal controls. The odds ratio (OR) for the CG genotype, as compared to the GG genotype, for HT patients was shown to be 4.065 (95% confidence interval (CI): 1.268–13.032). Comparison of the genotype analysis for the remaining gene polymorphisms and the allelic analysis for all of the screened gene polymorphisms, however, all revealed no statistically significant difference between the two study groups as regards frequency of genotype. In conclusion, we suggest that an IL‐6 gene promoter (−572) C/G polymorphism could represent a potential “candidate” genetic marker to predict an individual's susceptibility to HT. J. Clin. Lab. Anal. 20:260–265, 2006. © 2006 Wiley‐Liss, Inc.
机译:促炎细胞因子参与桥本甲状腺炎(HT)的发病机理。为了测试某些特定的促炎细胞因子基因多态性是否可以作为个体对HT易感性的遗传标记,我们从107 fromHT患者和163个对照中研究了某些感兴趣的促炎细胞因子基因的单点多态性,然后从中制备了必要的实验性基因组DNA。外周血,使用基于聚合酶链反应(PCR)的限制分析。我们检测到的多态性如下:1)白介素(IL)-1β基因在启动子(-511)和外显子5处的C / T和E1 / E2多态性; 2)内含子2上IL-1受体拮抗剂(IL-1Ra)基因的可变串联重复序列(VNTRs); 3)启动子处IL-6基因的C / G多态性(-572); 4)启动子处肿瘤坏死因子(TNF)-α基因的A / G多态性(-308)。数据表明,与正常对照组相比,HT患者的IL-6基因启动子的CG基因型比率增加,CC和GG基因型比率下降(卡方检验; = 0.025)。 HT患者的CG基因型与GG基因型的比值比(OR)显示为4.065(95%置信区间(CI):1.268–13.032)。其余基因多态性的基因型分析与所有筛选的基因多态性的等位基因分析的比较,均显示出两个研究组在基因型频率方面没有统计学上的显着差异。总之,我们建议IL-6基因启动子(-572)C / G多态性可以代表潜在的“候选”遗传标记,以预测个人对HT的易感性。 J.临床实验室肛门20:260–265,2006。©2006 Wiley-Liss,Inc.

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