Department of Endocrinology, Yanan University Affiliated Hospital, Shaanxi 716000, China.
Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai 201508, China.
Biomed Res Int. 2020 Aug 4;2020:1378427. doi: 10.1155/2020/1378427. eCollection 2020.
Many studies have shown that NLRC4 inflammasome polymorphisms are associated with a variety of autoimmune diseases, but the associations between NLRC4 polymorphisms and autoimmune thyroid diseases (AITDs) are unclear. Our research was aimed at identifying the correlations between NLRC4 polymorphisms and AITDs.
Hi-SNP high-throughput genotyping technology was used for detecting four single-nucleotide polymorphisms (SNPs) of NLRC4 in 1005 AITDs patients (including 629 Graves' disease and 376 Hashimoto's thyroiditis) and 781 healthy controls.
Compared with healthy controls, the allele frequencies and genotype distribution of rs385076 were statistically related to AITDs ( = 0.016 and = 0.048, respectively) and Hashimoto's thyroiditis ( = 0.022 and = 0.046, respectively). Before adjusting for age and gender, rs385076 and AITDs had a significant association in three models of allele model, dominant model, and homozygous model. After adjusting for age and gender, in the above three models, there is still a clear relationship between them. Before adjusting for age and gender, there were prominent discrepancy between rs385076 and Hashimoto's thyroiditis in the allele model (OR = 0.81, 95% CI 0.67-0.97; = 0.021) and the dominant model (OR = 0.73, 95% CI 0.57-0.94; = 0.014), after adjusting for age and gender, rs385076 and Hashimoto's thyroiditis were significantly related to allele model, dominant model, and homozygous model. However, rs455060, rs212704, and rs675712 were not related to AITDs in our study.
NLRC4 rs385076 was found to have a significant association with Hashimoto's thyroiditis for the first time. It laid a foundation for the disclosure of the pathogenesis of AITDs, and provided a possible treatment prospect for HT.
许多研究表明 NLRC4 炎性小体多态性与多种自身免疫性疾病有关,但 NLRC4 多态性与自身免疫性甲状腺疾病(AITD)之间的关系尚不清楚。我们的研究旨在确定 NLRC4 多态性与 AITD 之间的相关性。
采用 Hi-SNP 高通量基因分型技术检测 1005 例 AITD 患者(包括 629 例格雷夫斯病和 376 例桥本甲状腺炎)和 781 例健康对照者 NLRC4 的 4 个单核苷酸多态性(SNP)。
与健康对照组相比,rs385076 的等位基因频率和基因型分布与 AITD( = 0.016 和 = 0.048)和桥本甲状腺炎( = 0.022 和 = 0.046)显著相关。在未调整年龄和性别因素时,rs385076 与 AITD 在等位基因模型、显性模型和纯合子模型中具有显著相关性。在调整年龄和性别因素后,上述三种模型中仍存在明显的相关性。在未调整年龄和性别因素时,rs385076 与桥本甲状腺炎在等位基因模型(OR = 0.81,95%CI 0.67-0.97; = 0.021)和显性模型(OR = 0.73,95%CI 0.57-0.94; = 0.014)中存在显著差异,在调整年龄和性别因素后,rs385076 与桥本甲状腺炎在等位基因模型、显性模型和纯合子模型中均有显著相关性。然而,在本研究中,rs455060、rs212704 和 rs675712 与 AITD 无关。
首次发现 NLRC4 rs385076 与桥本甲状腺炎有显著相关性。这为揭示 AITD 的发病机制奠定了基础,并为 HT 的治疗提供了可能的前景。