Cai TianTian, Li Jie, An Xiaofei, Yan Ni, Li Danfeng, Jiang Yanfei, Wang Wen, Shi Liangfeng, Qin Qiu, Song Ronghua, Wang Guofei, Jiang Wenjuan, Zhang Jin-An
Department of Endocrinology, The First People's Hospital of Xianyang, No. 10 Biyuan West Road, Xianyang 712000, Shaanxi Province, People's Republic of China; Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Shanghai 201508, People's Republic of China.
Department of Nephrology, Xi'an Central Hospital, No.161 Xiwu Road, Xi'an 710003, Shaanxi Province, People's Republic of China.
Mol Cell Endocrinol. 2017 Jan 15;440:106-115. doi: 10.1016/j.mce.2016.11.017. Epub 2016 Nov 22.
Single nucleotide polymorphisms (SNPs) of the miR-146a, miR-499a and miR-125a have been shown to be associated with the susceptibility to several autoimmune diseases. This study was conducted to identify the association of SNPs rs2910164, rs57095329, rs3746444 and rs12976445 with autoimmune thyroid diseases (AITDs) in a Chinese Han population.
We enrolled 1061 patients with AITDs, including 701 patients with Graves' disease (GD) and 360 patients with Hashimoto's thyroiditis (HT), and 938 healthy individuals for a case-control genetic association study. Four SNPs were selected for genotyping by multiplex polymerase chain reaction and ligase detection reaction.
The frequencies of rs3746444 genotypes in patients with AITD and GD differed significantly from those in the controls. The frequencies of rs12976445 genotypes in patients with HT differed significantly from those in the controls. The frequencies of allele C in HT groups were significantly higher than those in control group. For the rs3746444 polymorphism, genetic associations between the combinational genotype and AITD/GD risk were observed in the dominant model, recessive model, and overdominant model. For the rs12976445 polymorphism, genetic associations between the combinational genotype and HT risk were also found in the dominant model and overdominant model. Moreover, gene-sex interactions were identified by GMDR and 2 × 2 crossover analysis.
Our results suggest rs3746444 (miR-499a) and rs12976445 (miR-125a) associated with AITD susceptibility and potential gene-sex interactions between the four polymorphisms and AITD.
已证明miR-146a、miR-499a和miR-125a的单核苷酸多态性（SNP）与多种自身免疫性疾病的易感性相关。本研究旨在确定中国汉族人群中SNP rs2910164、rs57095329、rs3746444和rs12976445与自身免疫性甲状腺疾病（AITD）的关联。
我们纳入了1061例AITD患者，包括701例格雷夫斯病（GD）患者和360例桥本甲状腺炎（HT）患者，以及938名健康个体进行病例对照基因关联研究。通过多重聚合酶链反应和连接酶检测反应选择4个SNP进行基因分型。
AITD患者和GD患者中rs3746444基因型的频率与对照组有显著差异。HT患者中rs12976445基因型的频率与对照组有显著差异。HT组中等位基因C的频率显著高于对照组。对于rs3746444多态性，在显性模型、隐性模型和超显性模型中观察到组合基因型与AITD/GD风险之间的基因关联。对于rs12976445多态性，在显性模型和超显性模型中也发现组合基因型与HT风险之间的基因关联。此外，通过GMDR和2×2交叉分析确定了基因-性别相互作用。
我们的结果表明rs3746444（miR-499a）和rs12976445（miR-125a）与AITD易感性相关，并且这四种多态性与AITD之间存在潜在的基因-性别相互作用。
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