Genetic association between IL-17F gene polymorphisms and the pathogenesis of Graves' Disease in the Han Chinese population
Genetic association between IL-17F gene polymorphisms and the pathogenesis of Graves' Disease in the Han Chinese population
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DOI：
10.1016/j.gene.2012.10.021
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发表时间：
2013-01-10
期刊：
影响因子：
3.5
通讯作者：
Ning, Guang
中科院分区：
文献类型：
--
作者：
Guo, Ting;Huo, Ya'nan;Ning, Guang
背景：Graves病是一种常见而复杂的疾病，具有很强的遗传性。IL-17F是一种强大的细胞因子，是多种人类自身免疫性疾病的潜在致病因子。在本研究中，我们通过两个独立的中国队列的病例对照研究，重点研究了IL-17F基因多态性与GD易感性的关系。方法：我们的初步研究来自上海，包括757名GD患者和741名健康对照。我们的复制队列来自厦门，包括434名GD患者和420名健康对照。结果：在上海人群中，rs9463772基因多态性与GD和Graves病相关眼病(GO)患者显著相关(P等位基因分别为7×10(-5)和7.4×10(-3))。Rs763780基因多态性在GD患者和健康对照组中的分布差异有统计学意义(P=0.017)。在复制研究中，我们证实了rs9463772基因多态与GD易感性的关系。单倍型分析显示，4个SNPs(GCTT)的单倍型与上海地区人群中Graves病的风险显著相关(P=7.9×10(-3))。结论：IL-17F基因的多态性增加了Graves病的风险，因此IL-17F基因是预测中国汉族人群Graves病的一个很好的候选基因。(C)2012爱思唯尔B.V.保留所有权利。
Background: Graves' Disease (GD) is a common and complex disorder, with a strong hereditary component. IL-17F is a potent cytokine and a potential contributor to the etiology of various human autoimmune diseases. In the present study, we focused on the relationship between polymorphisms in the IL-17F gene and GD susceptibility through a case-control association study in two independent Chinese cohorts.Methods: Our pilot study was performed on a cohort from Shanghai, which included 757 GD patients and 741 healthy controls. Our replication cohort was from Xiamen, consisting of 434 GD patients and 420 healthy controls. We selected four tag SNPs (rs763780, rs2397084, rs9463772 and rs761167) within the IL-17F gene to conduct a genotyping analysis.Results: In the Shanghai cohort, the rs9463772 polymorphism showed a significant association with GD and Graves' Disease-associated Ophthalmopathy (GO) patients (P-allele = 7 x 10(-5) and 7.4 x 10(-3) for GD and GO patients, respectively). The rs763780 polymorphism was found to have only a difference in genotype distribution between GD individuals and healthy controls (P = 0.017). In the replication study, we confirmed the association between the rs9463772 polymorphism and GD susceptibility. Haplotype analysis showed that the haplotype of the four SNPs (GCTT) was associated with a significant risk of GD in the Shanghai cohort (P = 7.9 x 10(-3)).Conclusion: Our results suggest that polymorphisms in the IL-17F gene increase the risk of Graves' Disease and that IL-17F is therefore a good candidate gene for Graves' Disease prediction in the Han Chinese population. (c) 2012 Elsevier B.V. All rights reserved.