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白细胞介素 18(IL18)基因启动子多态性与巴西患者 1 型糖尿病有关。

Interleukin 18 (IL18) gene promoter polymorphisms are associated with type 1 diabetes mellitus in Brazilian patients.

机构信息

Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.

出版信息

Cytokine. 2013 May;62(2):286-9. doi: 10.1016/j.cyto.2013.03.004. Epub 2013 Apr 2.

DOI:10.1016/j.cyto.2013.03.004
PMID:23557801
Abstract

Interleukin 18 (IL-18) is a cytokine that plays an important role in the Th1 response, by its ability to induce IFN-γ production in T cells and natural killer cells. Functional variants of IL18 gene has been reported as associated with type 1 diabetes (T1D). In the present study were analyzed three promoter single nucleotide polymorphisms (SNPs), at -656 (rs1946519), -607 (rs1946518) and -137 (rs187238) position, in 181 children and adolescents with T1D and 122 healthy individuals, both from metropolitan area of Recife, Northeast of Brazil. T1D patients were stratified according to the presence autoimmune thyroiditis and celiac disease. Allele and genotype frequencies of IL18 SNPs were Hardy-Weinberg equilibrium in patients and controls. The allele -137G and the haplotype -656G/-607C/-137G were more frequent in T1D patients (OR=1.82 and 1.97, respectively) then in healthy controls. However, those SNPs were not associated with the age of T1D onset as well as with the insurgence of AITD and/or CD in concomitant with T1D patients. Our findings suggest an association between IL18 promoter SNPs and susceptibility to T1D in Brazilian patients.

摘要

白细胞介素 18 (IL-18) 是一种细胞因子,通过诱导 T 细胞和自然杀伤细胞产生 IFN-γ,在 Th1 反应中发挥重要作用。IL18 基因的功能变体已被报道与 1 型糖尿病 (T1D) 有关。本研究分析了三个位于 -656 (rs1946519)、-607 (rs1946518) 和 -137 (rs187238) 位置的启动子单核苷酸多态性 (SNP),在来自巴西东北部累西腓大都市区的 181 名 T1D 儿童和青少年以及 122 名健康个体中进行了分析。根据是否存在自身免疫性甲状腺炎和乳糜泻,将 T1D 患者进行分层。IL18 SNP 的等位基因和基因型频率在患者和对照组中均符合 Hardy-Weinberg 平衡。-137G 等位基因和-656G/-607C/-137G 单倍型在 T1D 患者中更为常见(OR=1.82 和 1.97),而在健康对照组中则不常见。然而,这些 SNP 与 T1D 发病年龄以及 AITD 和/或 CD 与 T1D 同时发生无关。我们的研究结果表明,IL18 启动子 SNP 与巴西患者的 T1D 易感性之间存在关联。

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