Lin Jiunn-Diann, Yang Shun-Fa, Wang Yuan-Hung, Fang Wen-Fang, Tang Kam-Tsun, Cheng Chao-Wen
Division of Endocrinology, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
Clin Endocrinol (Oxf). 2019 Dec;91(6):860-868. doi: 10.1111/cen.14090. Epub 2019 Sep 16.
Interferon (IFN)-α treatment predisposes patients to the occurrence of autoimmune thyroid disease (AITD).
We investigated associations of single nucleotide polymorphisms (SNPs) of molecules participating in the IFN-α signature, including rs2304204 and rs2304206 of IFN regulatory factor 3 (IRF3), rs1061501 of IRF7, and rs7708392 of TNFA1P3-interacting protein 1 with serum IFN-α levels and AITD in an ethnic Chinese (ie Taiwanese) population. Totally, 319 patients with Graves' disease (GD), 83 patients with Hashimoto's thyroiditis (HT) and 351 healthy controls were recruited.
There were increased percentages of the C allele, and CC and TC + CC genotypes of rs1061501 in GD patients compared to the controls. HT patients had higher serum IFN-α levels compared to the controls, while there was no difference in serum IFN-α levels between patients with GD and controls. However, patients with GD in a remission status had lower serum IFN-α levels than those without remission. On the other hand, the C allele of rs1061501 was only associated with serum IFN-α levels in patients with HT.
The SNP rs1061501 of IRF7 was associated with the development of GD. Serum IFN-α levels were associated with HT, while they might modify the disease status of GD. Moreover, a genetic effect of rs1061501 on regulating serum IFN-α production was observed in HT.
干扰素（IFN）-α治疗使患者易患自身免疫性甲状腺疾病（AITD）。
我们调查了参与IFN-α信号通路的分子的单核苷酸多态性（SNP），包括干扰素调节因子3（IRF3）的rs2304204和rs2304206、IRF7的rs1061501以及TNFA1P3相互作用蛋白1的rs7708392与中国汉族（即台湾地区）人群血清IFN-α水平和AITD的相关性。共招募了319例格雷夫斯病（GD）患者、83例桥本甲状腺炎（HT）患者和351名健康对照。
与对照组相比，GD患者中rs1061501的C等位基因以及CC和TC + CC基因型的百分比增加。与对照组相比，HT患者的血清IFN-α水平更高，而GD患者与对照组之间的血清IFN-α水平无差异。然而，处于缓解状态的GD患者的血清IFN-α水平低于未缓解的患者。另一方面，rs1061501的C等位基因仅与HT患者的血清IFN-α水平相关。
IRF7的SNP rs1061501与GD的发生有关。血清IFN-α水平与HT有关，同时它们可能会改变GD的疾病状态。此外，在HT中观察到rs1061501对调节血清IFN-α产生的遗传效应。
