Zhu Yawen, Qian Ai, Cheng Yuanyuan, Li Ming, Huang Chuanbing
The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Front Genet. 2025 Feb 20;16:1502921. doi: 10.3389/fgene.2025.1502921. eCollection 2025.
Autoimmune diseases (ADs) result from an aberrant immune response, in which the body mistakenly targets its own tissues. The association between TGF-β1 gene polymorphisms and risk of developing autoimmune diseases remains to be established. This meta-analysis aimed to reassess the relationship between TGF-β1 T869C gene polymorphisms and susceptibility to autoimmune diseases.
We conducted a comprehensive search of seven electronic databases for case-control studies investigating the TGF-β1 T869C polymorphism in relation to autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjögren's syndrome, and juvenile idiopathic arthritis. The search encompassed publications published up to June 2024. Studies were categorized by ethnicity into three groups: Asian, Caucasian, and mixed-ethnicity groups. Five different genetic models were assessed, and the quality of the included studies was evaluated using the Newcastle-Ottawa Scale (NOS). Statistical analyses were performed using Stata 14.0, by calculating the odds ratio (OR) and 95% confidence interval (CI).
A total of 32 case-control studies (31 articles), comprising 4,304 cases and 4,664 controls, were included in this meta-analysis. The overall analysis indicated no significant association between TGF-β1 T869C gene polymorphism and susceptibility to autoimmune diseases. However, subgroup analyses based on race and disease status revealed significant associations. Ethnic subgroup analysis showed that the TGF-β1 T869C allele model (T vs C: OR = 1.422, 95% CI = 1.109-1.824, P = 0.006), homozygous model (TT vs CC: OR = 1.923, 95% CI = 1.232-3.004, P = 0.004), and dominant model (TT + TC vs CC: OR = 1.599, 95% CI = 1.164-2.196, P = 0.004) were associated with autoimmune disease susceptibility in Asians. In the disease subgroup analysis, the results showed that the TGF-β1 T869C allele model (T vs C: OR = 1.468, 95% CI = 1.210-1.781, P = 0.000), recessive model (TT vs TC + CC: OR = 1.418, 95% CI = 1.097-1.832, P = 0.008), dominant model (TT + TC vs CC: OR = 1.747, 95% CI = 1.330-2.295, P = 0.000), homozygous model (TT vs CC: OR = 1.937, 95% CI = 1.373-2.734, P = 0.000), and heterozygous model (TC vs CC: OR = 1.555, 95% CI = 1.199-2.016, P = 0.001) were associated with rheumatoid arthritis susceptibility.
The findings of this meta-analysis suggest that carrying the T allele of the TGF-β1 T869C polymorphism increases the risk of autoimmune diseases in Asian populations. Moreover, individuals carrying the T allele are at higher risk of developing rheumatoid arthritis.
自身免疫性疾病（ADs）是由异常免疫反应引起的，在这种反应中，身体错误地将自身组织作为攻击目标。转化生长因子-β1（TGF-β1）基因多态性与自身免疫性疾病发生风险之间的关联尚待确定。本荟萃分析旨在重新评估TGF-β1 T869C基因多态性与自身免疫性疾病易感性之间的关系。
我们全面检索了七个电子数据库，以查找关于TGF-β1 T869C多态性与自身免疫性疾病关系的病例对照研究，这些疾病包括类风湿关节炎、系统性红斑狼疮、系统性硬化症、干燥综合征和青少年特发性关节炎。检索涵盖截至2024年6月发表的文献。研究按种族分为三组：亚洲组、白种人组和混合种族组。评估了五种不同的遗传模型，并使用纽卡斯尔-渥太华量表（NOS）评估纳入研究的质量。使用Stata 14.0进行统计分析，计算比值比（OR）和95%置信区间（CI）。
本荟萃分析共纳入32项病例对照研究（31篇文章），包括4304例病例和4664例对照。总体分析表明，TGF-β1 T869C基因多态性与自身免疫性疾病易感性之间无显著关联。然而，基于种族和疾病状态的亚组分析显示存在显著关联。种族亚组分析表明，TGF-β1 T869C等位基因模型（T对C：OR = 1.422，95% CI = 1.109 - 1.824，P = 0.006）、纯合子模型（TT对CC：OR = 1.923，95% CI = 1.232 - 3.004，P = 0.004）和显性模型（TT + TC对CC：OR = 1.599，95% CI = 1.164 - 2.196，P = 0.004）与亚洲人群的自身免疫性疾病易感性相关。在疾病亚组分析中，结果显示TGF-β1 T869C等位基因模型（T对C：OR = 1.468，95% CI = 1.210 - 1.781，P = 0.000）、隐性模型（TT对TC + CC：OR = 1.418，95% CI = 1.097 - 1.832，P = 0.008）、显性模型（TT + TC对CC：OR = 1.747，95% CI = 1.330 - 2.295，P = 0.000）、纯合子模型（TT对CC：OR = 1.937，95% CI = 1.373 - 2.734，P = 0.000）和杂合子模型（TC对CC：OR = 1.555，95% CI = 1.199 - 2.016，P = 0.001）与类风湿关节炎易感性相关。
本荟萃分析的结果表明，携带TGF-β1 T869C多态性的T等位基因会增加亚洲人群患自身免疫性疾病的风险。此外，携带T等位基因的个体患类风湿关节炎的风险更高。
