The single nucleotide polymorphism T‐1031C has shown to have an important role in the regulation and transcription efficiency of TNF‐α gene. Yet, the relationship between TNF‐α T‐1031C gene polymorphism and the development of endometriosis (EM) still remains unclear. The aim of this meta‐analysis was to summarize the effects of TNF‐α T‐1031C gene polymorphism and clarify their possible association with EM. A comprehensive literature search was performed using PubMed, EMBASE, Web of Science, and the Cochrane Central Register of Controlled Trials (up to August 10, 2019). A fixed‐ or random‐effects model was employed according to the heterogeneity among studies. The log odds ratios and 95% confidence intervals (CIs) were estimated in the models of allele comparison (T vs C), homozygote comparison (TT vs CC) and (TC vs CC), dominant (TT vs TC + CC), hyperdominant (TT + CC vs TC), and recessive (TT + TC vs CC) to estimate the strength of the associations. A total of 7 case‐control studies were included in this meta‐analysis. Overall, significant associations between TNF‐α T‐1031C and EM were identified from (T vs C: log OR [95% CI] = 0.31 [−0.09, 0.71]; TT + CC vs TC: 0.27 [0.04, 0.50]; TC + CC vs TT: −0.83 [−1.19, −0.47]). On the other hand, no significant correlation was found in other gene models (TT vs TC: log OR [95% CI] = 0.89 [0.64, 1.13]; TT vs CC: 0.3 [−0.74, 1.36]; TT + TC vs CC: 0.17 [−0.81, 1.15]). In subgroup analyses by ethnicity or HWE P‐value, there was a statistically significant association between TNF‐α T‐1031C polymorphisms and EM in the dominant model (TT vs TC + CC: log OR [95%] = −0.84 [−1.60, −0.09]) for the European population, and in hyperdominant model (TT + CC vs TC: log OR [95%] = 0.24 [0.001, 0.49]) for Asian population. To sum up, this meta‐analysis showed that TNF‐α T‐1031C polymorphism was associated with EM susceptibility and has a protective effect in Asian and European populations.

中文翻译：

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TNF-α 基因 T-1031C 多态性与子宫内膜异位症的关联：荟萃分析。

单核苷酸多态性 T-1031C 已显示在 TNF-α 基因的调控和转录效率中具有重要作用。然而，TNF-α T-1031C 基因多态性与子宫内膜异位症（EM）的发展之间的关系仍不清楚。本荟萃分析的目的是总结 TNF-α T-1031C 基因多态性的影响并阐明它们与 EM 的可能关联。使用 PubMed、EMBASE、Web of Science 和 Cochrane Central Register of Controlled Trials（截至 2019 年 8 月 10 日）进行了全面的文献检索。根据研究之间的异质性采用固定或随机效应模型。在等位基因比较（T vs C）、纯合子比较（TT vs CC）和（TC vs CC）、显性（TT vs TC + CC）、超显性（TT + CC vs TC）和隐性（TT + TC vs CC）来估计关联的强度。该荟萃分析共纳入了 7 项病例对照研究。总体而言，TNF-α T-1031C 与 EM 之间的显着关联是从以下条件确定的（T vs C：log OR [95% CI] = 0.31 [-0.09, 0.71]；TT + CC vs TC：0.27 [0.04, 0.50]； TC + CC 与 TT：-0.83 [-1.19, -0.47]）。另一方面，在其他基因模型中未发现显着相关性（TT vs TC：log OR [95% CI] = 0.89 [0.64, 1.13]；TT vs CC：0.3 [-0.74, 1.36]；TT + TC vs CC：0.17 [-0.81, 1.15])。在按种族或 HWE 进行的亚组分析中 TNF-α T-1031C 和 EM 之间的显着关联是从以下确定的（T vs C：log OR [95% CI] = 0.31 [-0.09, 0.71]；TT + CC vs TC：0.27 [0.04, 0.50]；TC + CC 与 TT：-0.83 [-1.19, -0.47]）。另一方面，在其他基因模型中未发现显着相关性（TT vs TC：log OR [95% CI] = 0.89 [0.64, 1.13]；TT vs CC：0.3 [-0.74, 1.36]；TT + TC vs CC：0.17 [-0.81, 1.15])。在按种族或 HWE 进行的亚组分析中 TNF-α T-1031C 和 EM 之间的显着关联是从以下确定的（T vs C：log OR [95% CI] = 0.31 [-0.09, 0.71]；TT + CC vs TC：0.27 [0.04, 0.50]；TC + CC 与 TT：-0.83 [-1.19, -0.47]）。另一方面，在其他基因模型中未发现显着相关性（TT vs TC：log OR [95% CI] = 0.89 [0.64, 1.13]；TT vs CC：0.3 [-0.74, 1.36]；TT + TC vs CC：0.17 [-0.81, 1.15])。在按种族或 HWE 进行的亚组分析中P值，显性模型中 TNF-α T-1031C 多态性与 EM 之间存在统计学显着关联（TT vs TC + CC：log OR [95%] = -0.84 [-1.60, -0.09]）欧洲人群，以及亚洲人群的超优势模型（TT + CC vs TC：log OR [95%] = 0.24 [0.001, 0.49]）。总之，这项荟萃分析表明 TNF-α T-1031C 多态性与 EM 易感性相关，并且在亚洲和欧洲人群中具有保护作用。