Shanghai Institutes for Biological Sciences, Shanghai JiaoTong University School of Medicine, China.
Clin Endocrinol (Oxf). 2011 Jan;74(1):125-9. doi: 10.1111/j.1365-2265.2010.03905.x.
Graves' disease (GD) is a common autoimmune disorder and genetic and environmental factors contributing to its aetiology. The pro-inflammatory cytokine interleukin-12 (IL-12) is believed to be critically involved in the pathogenesis of GD. This study aims to elucidate the effect of IL-12A gene polymorphisms on GD.
A case-control association study of five tag single nucleotide polymorphisms (SNPs) (rs2243115, rs2243123, rs583911, rs568408 and rs2243143) within the IL-12A gene was performed in two independent Chinese cohorts. A pilot cohort conducted in Shanghai consisted of 701 patients and 686 controls and a replicate cohort in Xiamen Island included 378 patients and 312 controls. The five SNPs were genotyped by the SNPstream Genotyping Systems and Taqman PCR method.
Polymorphism of rs568408, located at the 3'-UTR region, was found to have a significant association with GD in both the cohorts (P(allele) = 2·96 × 10⁻⁷ and P(allele) = 0·013 for Shanghai and Xiamen Island cohorts, respectively). Haplotype analysis showed that the haplotype of the five SNPs (TTAAG) was associated with a significant risk of GD in both the cohorts (OR = 2·04 and OR = 1·70 for Shanghai and Xiamen Island cohorts, respectively).
Our results have established an association between IL-12A polymorphism and GD susceptibility in the Chinese population.
格雷夫斯病（GD）是一种常见的自身免疫性疾病，其发病机制与遗传和环境因素有关。促炎细胞因子白细胞介素-12（IL-12）被认为在 GD 的发病机制中起着至关重要的作用。本研究旨在阐明 IL-12A 基因多态性对 GD 的影响。
在中国两个独立的队列中进行了一项关于 IL-12A 基因内五个标签单核苷酸多态性（SNP）（rs2243115、rs2243123、rs583911、rs568408 和 rs2243143）的病例对照关联研究。在上海进行的试点队列包括 701 例患者和 686 例对照，在厦门岛进行的复制队列包括 378 例患者和 312 例对照。使用 SNPstream 基因分型系统和 Taqman PCR 方法对这五个 SNP 进行基因分型。
位于 3'-UTR 区域的 rs568408 多态性在两个队列中均与 GD 显著相关（上海和厦门岛队列的 P(等位基因)分别为 2·96×10⁻⁷和 0·013）。单体型分析显示，五个 SNP 的单体型（TTAAG）与两个队列的 GD 显著相关（上海和厦门岛队列的 OR 分别为 2·04 和 1·70）。
我们的研究结果在中国人群中建立了 IL-12A 多态性与 GD 易感性之间的关联。
