A pilot study of interferon-induced helicase and glutamate decarboxylase gene polymorphism with autoimmune thyroid disease

Numerous genes are involved in immune system modulation, and their polymorphisms may contribute to developing autoimmune disorders. Genetic variation contributes significantly to disease susceptibility to autoimmune thyroid disease (AITD). This work aims to investigate the role of single-nucleotide polymorphisms (SNPs) of interferon induced with helicase C domain 1 (IFIH1) rs1990760 and glutamate decarboxylase (GAD) rs769404 in AITD development. The study had 330 participants, including 153 cases of Hashimoto’s thyroiditis (HT), 77 cases of Graves’ disease (GD), and 100 healthy controls. All subjects underwent medical history assessment and clinical evaluation. Tests were conducted using real-time PCR, including genotyping of IFIH1 (rs1990760) and GAD (rs769404) via an allele discrimination assay. Most patients with AITD were females. About 18.3% of HT cases and 15.6% of GD cases have a positive family history of thyroid disease. A significant statistical difference was observed between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism. Moreover, GD patients, HT patients, and the control group showed increased CT and TT alleles in patients compared to those in controls. IFIH1 and GAD polymorphisms are involved in AITDs (HT and GD) development and are associated with some clinical presentations. HT and GD cases had a positive family history of thyroid disease. There was a significant statistical difference between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism.

众多基因参与免疫系统调控，其基因多态性可能与自身免疫性疾病的发生发展相关。遗传变异对自身免疫性甲状腺病（autoimmune thyroid disease, AITD）的疾病易感性具有显著影响。本研究旨在探讨解旋酶C结构域1诱导干扰素蛋白（interferon induced with helicase C domain 1, IFIH1）rs1990760与谷氨酸脱羧酶（glutamate decarboxylase, GAD）rs769404的单核苷酸多态性（single-nucleotide polymorphisms, SNPs）在AITD发生发展中的作用。本研究共纳入330名受试者，包括153例桥本甲状腺炎（Hashimoto’s thyroiditis, HT）患者、77例格雷夫斯病（Graves’ disease, GD）患者以及100名健康对照者。所有受试者均接受病史评估与临床检查。本研究采用实时荧光定量PCR（real-time PCR），通过等位基因鉴别分析法完成IFIH1（rs1990760）与GAD（rs769404）的基因分型检测。大多数AITD患者为女性。约18.3%的HT患者与15.6%的GD患者存在甲状腺疾病阳性家族史。相较于健康对照组，AITD患者的IFIH1（rs1990760）与GAD（rs769404）基因多态性存在显著统计学差异。此外，相较于对照组，GD患者与HT患者的CT及TT等位基因占比均更高。IFIH1与GAD基因多态性参与AITD（HT与GD）的发生发展，并与部分临床表现相关。HT与GD患者均存在甲状腺疾病阳性家族史。AITD患者与健康对照组在IFIH1（rs1990760）与GAD（rs769404）基因多态性方面仍存在显著统计学差异。