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首页> 外文期刊>European cytokine network >Association analysis of interleukin gene polymorphisms in autoimmune thyroid diseases in the Tunisian population.
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Association analysis of interleukin gene polymorphisms in autoimmune thyroid diseases in the Tunisian population.

机译：突尼斯人群自身免疫性甲状腺疾病中白介素基因多态性的关联分析。

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Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and autoimmune hypothyroidism (AH), are inherited as complex traits. Among the genes contributing to AITDs susceptibility are genes of the IL-1 family. IL-1 regulates T and B lymphocyte maturation, including the induction of several cytokines and cytokine receptors. Therefore, disturbances of this balance may not only play a role in inflammation but also in the pathogenesis of autoimmunity. In order to investigate genetic association of IL-1 gene polymorphisms with AITDs, we performed both a familial study in a large Tunisian pedigree with high prevalence of AITDs (64 patients and 176 controls), and a case-control study (131 GD unrelated patients and 225 healthy controls). PCR and PCR-RFLP methods were used to analyse respectively a VNTR in the IL-1RN gene and three SNPs in both IL-1B genes (-511 C/T and +3954 C/T) and IL-1A (-889 C/T). The family-based association study showed an association of the IL-1B+3954 C/T polymorphism (p = 0.02) and two haplotypes IL-1RN*3/C/T/T and IL-1RN*1/C/T/T (p = 0.009 and p = 0.047 respectively) with AITDs. The case-control study is the first study revealing a significant association of the IL-1A-889 C/T polymorphism (chi2 = 10.23; p = 0.0014) with susceptibility to GD. Our data suggest that the IL-1 gene cluster may harbour susceptibility genes for AITDs and GD pathogenesis in the Tunisian population.
机译：自身免疫性甲状腺疾病（AITDs），包括格雷夫斯病（GD）和自身免疫性甲状腺功能减退症（AH），是复杂的性状。 IL-1家族的基因是导致AITDs易感性的基因之一。 IL-1调节T和B淋巴细胞的成熟，包括几种细胞因子和细胞因子受体的诱导。因此，这种平衡的紊乱不仅可能在炎症中起作用，而且在自身免疫的发病机理中也可能起作用。为了调查IL-1基因多态性与AITD的遗传关联，我们在一个突尼斯家系中AITD患病率较高（64例患者和176个对照）中进行了一项家族研究，并进行了一项病例对照研究（131 GD个无关患者）和225个健康对照）。使用PCR和PCR-RFLP方法分别分析IL-1RN基因中的VNTR和IL-1B基因（-511 C / T和+3954 C / T）和IL-1A（-889 C / T）。基于家族的关联研究显示IL-1B + 3954 C / T多态性（p = 0.02）与两个单倍型IL-1RN * 3 / C / T / T和IL-1RN * 1 / C / T /相关AITD的T（分别为p = 0.009和p = 0.047）。病例对照研究是第一个揭示IL-1A-889 C / T多态性（chi2 = 10.23; p = 0.0014）与GD敏感性显着相关的研究。我们的数据表明，IL-1基因簇可能在突尼斯人群中具有AITDs和GD发病机理的易感基因。

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