Abstract Autoimmune diseases are characterized by the loss of self-tolerance, leading to immune-mediated tissue destruction and chronic inflammation. Tyrosine kinase 2 (TYK2) protein plays a key role in immunity and apoptosis pathways. Studies have reported associations between single nucleotide polymorphisms (SNPs) in the TYK2 gene and autoimmune diseases; however, results are still inconclusive. Thus, we conducted a systematic review followed by meta-analysis. A literature search was performed to find studies that investigated associations between TYK2 SNPs and autoimmune diseases (multiple sclerosis, systemic lupus erythematosus, Crohn’s disease, ulcerative colitis, psoriasis, rheumatoid arthritis, type 1 diabetes, and inflammatory bowel disease). Pooled odds ratios (OR) with 95 % CI were calculated using random (REM) or fixed (FEM) effects models in the Stata 11.0 Software. Thirty-four articles were eligible for inclusion in the meta-analyses, comprising 9 different SNPs: rs280496, rs280500, rs280523, rs280519, rs2304256, rs12720270, rs12720356, rs34536443, and rs35018800. Meta-analysis results showed the minor alleles of rs2304256, rs12720270, rs12720356, rs34536443, and rs35018800 SNPs were associated with protection against autoimmune diseases. Moreover, the A allele of the rs280519 SNP was associated with risk for systemic lupus erythematosus. Our meta-analyses demonstrated that the rs2304256, rs12720270, rs12720356, rs34536443, rs35018800, and rs280519 SNPs in the TYK2 gene are associated with different autoimmune diseases.

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TYK2基因多态性与自身免疫性疾病的关联：荟萃分析的全面和更新的系统评价

摘要自身免疫性疾病的特点是丧失自我耐受性，导致免疫介导的组织破坏和慢性炎症。酪氨酸激酶2（TYK2）蛋白在免疫和凋亡途径中起关键作用。研究报道了TYK2基因中的单核苷酸多态性（SNP）与自身免疫性疾病之间的关联。但是，结果仍不确定。因此，我们进行了系统的审查，然后进行荟萃分析。进行了文献检索以查找研究TYK2 SNP与自身免疫疾病（多发性硬化症，系统性红斑狼疮，克罗恩病，溃疡性结肠炎，牛皮癣，类风湿性关节炎，1型糖尿病和炎性肠病）之间的关联的研究。使用Stata 11.0软件中的随机（REM）或固定（FEM）效应模型，计算出具有95％CI的合并优势比（OR）。有34篇文章符合纳入荟萃分析的条件，包括9个不同的SNP：rs280496，rs280500，rs280523，rs280519，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800。荟萃分析结果显示，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800 SNP的次要等位基因与自身免疫性疾病的保护相关。此外，rs280519 SNP的A等位基因与系统性红斑狼疮的风险有关。我们的荟萃分析表明，TYK2基因中的rs2304256，rs12720270，rs12720356，rs34536443，rs35018800和rs280519 SNP与不同的自身免疫性疾病相关。有34篇文章符合纳入荟萃分析的条件，包括9个不同的SNP：rs280496，rs280500，rs280523，rs280519，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800。荟萃分析结果显示，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800 SNP的次要等位基因与自身免疫性疾病的保护相关。此外，rs280519 SNP的A等位基因与系统性红斑狼疮的风险有关。我们的荟萃分析表明，TYK2基因中的rs2304256，rs12720270，rs12720356，rs34536443，rs35018800和rs280519 SNP与不同的自身免疫性疾病相关。有34篇文章符合纳入荟萃分析的条件，包括9个不同的SNP：rs280496，rs280500，rs280523，rs280519，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800。荟萃分析结果显示，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800 SNP的次要等位基因与自身免疫性疾病的保护相关。此外，rs280519 SNP的A等位基因与系统性红斑狼疮的风险有关。我们的荟萃分析表明，TYK2基因中的rs2304256，rs12720270，rs12720356，rs34536443，rs35018800和rs280519 SNP与不同的自身免疫性疾病相关。荟萃分析结果显示，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800 SNP的次要等位基因与自身免疫性疾病的保护相关。此外，rs280519 SNP的A等位基因与系统性红斑狼疮的风险有关。我们的荟萃分析表明，TYK2基因中的rs2304256，rs12720270，rs12720356，rs34536443，rs35018800和rs280519 SNP与不同的自身免疫性疾病相关。荟萃分析结果显示，rs2304256，rs12720270，rs12720356，rs34536443和rs35018800 SNP的次要等位基因与自身免疫性疾病的保护相关。此外，rs280519 SNP的A等位基因与系统性红斑狼疮的风险有关。我们的荟萃分析表明，TYK2基因中的rs2304256，rs12720270，rs12720356，rs34536443，rs35018800和rs280519 SNP与不同的自身免疫性疾病相关。