Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Department of Clinical Laboratory, The First Hospital of Jilin University, Jilin, China.
Front Immunol. 2021 Jun 23;12:640083. doi: 10.3389/fimmu.2021.640083. eCollection 2021.
Systemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.
A case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.
Our study demonstrated that the rs117026326 T allele and the rs73366469 C allele were strongly associated with patients with SSc ( = 6.97E-10 and = 1.33E-08, respectively). Patients carrying the rs117026326 TT genotype and the rs73366469 CC genotype had a strongly increased risk of SSc ( = 6.25E-09 and = 1.67E-08, respectively), and those carrying the rs1599961 AA genotype had a suggestively significantly increased risk of SSc ( = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) ( < 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models ( = 0.0026). rs2304256 was not significantly associated with SSc in this study.
rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. rs1599961 showed a suggestive association with SSc, and no significant association was found between rs2304256 and SSc in this Chinese Han population.
系统性硬化症（SSc）是一种罕见的自身免疫性疾病，其表现因种族而异。已有研究报道，在其他人群和患有各种自身免疫性疾病的个体中，GTFSI、NFKB1 和 TYK2 基因中的单核苷酸多态性（SNPs）与 SSc 相关。本研究旨在探讨这些 SNPs 与汉族人群 SSc 易感性的关系。
采用病例对照研究，纳入 343 例 SSc 患者和 694 名匹配的健康对照者。采用Sequenom MassArray iPLEX 系统对 GTF2I、NFKB1 和 TYK2 中的 SNPs 进行基因分型。采用 PLINK v1.90 软件进行关联分析。
本研究表明，rs117026326T 等位基因和 rs73366469C 等位基因与 SSc 患者显著相关（ = 6.97E-10 和 = 1.33E-08，分别）。携带 rs117026326 TT 基因型和 rs73366469 CC 基因型的患者 SSc 发病风险显著增加（ = 6.25E-09 和 = 1.67E-08，分别），携带 rs1599961 AA 基因型的患者 SSc 发病风险增加具有统计学意义（ = 0.014）。此外，rs117026326 和 rs73366469 与 SSc 在不同的遗传模型（加性模型、显性模型和隐性模型）中相关（ < 0.05），而 rs1599961 仅与 SSc 的显性遗传模型相关，与加性和隐性模型均不相关（ = 0.0026）。rs2304256 与 SSc 无显著关联。
rs117026326 和 rs73366469 SNPs 与汉族人群 SSc 显著相关。rs1599961 与 SSc 具有相关性，但汉族人群中 rs2304256 与 SSc 无显著关联。
