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Gene & Protein in Disease TNFA polymorphism and risk of endometriosis

the Bonferroni correction, the significance of publication data ,12,18 seven studies were included in the final analysis.
bias diminished. Despite the initial detection of potential This analysis encompassed a total sample size of 2,578
biases in reporting, particularly concerning certain genetic individuals, comprising 1,181 cases and 1,397 controls.
models, the rigorous statistical adjustments made these Interestingly, a higher prevalence of the rare genotype
biases statistically non-significant, thereby reinforcing the “CC” was observed among cases (5.33%). Although
robustness and reliability of our analysis. significant associations were initially found for both the
overdominant and codominant models (HR vs HT),
3.1.5. -863 C>A adjustments for Bonferroni correction rendered these
For the -863 C>A polymorphism of the TNFA gene, we associations statistically insignificant (Table 5). No
initially identified seven relevant studies (Table 3). Upon significant association was observed in the subgroup
exclusion of studies lacking genotypic data 12,18 and those analysis based on ethnicity (Table 7).
deviating from HWE, four studies were included in the 3.2. TSA
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final pooled analysis. The combined sample comprised
1,391 individuals, with 648 endometriosis patients In this meta-analysis, we employed TSA to determine the
and 743 healthy controls. Notably, analysis of the rare requisite sample size necessary for identifying a significant
genotypic frequency revealed a higher occurrence of the association through pooled analysis. Our findings revealed
rare genotype among cases (3.24%) compared to healthy that none of the TNFA gene polymorphisms (-238
controls (2.82%). However, no significant associations G>A, -308 G>A, -857 C>T, -863 C>A, and -1031 T>C)
were observed under any of the genetic models employed. met the optimal sample size threshold (Figures S1-S5).
Furthermore, Egger’s test revealed no significant bias, This particular finding underscores the need for additional
further supporting the robustness of our findings, as studies to establish a statistically significant association.
depicted in Table 5.
4. Discussion
3.1.6. -1031 T>C
Endometriosis is a complex gynecological disorder
For the -1031 T>C variant of the TNFA gene, we initially influenced by genetic factors, including the TNFA gene,
identified nine relevant studies (Table 3). Following the featuring multiple upstream single nucleotide variations
exclusion of two studies due to the lack of genotypic (Table 1). These variations are linked to increased
3

Table 7. Subgroup analysis of the ‑1031 T>C variant based on ethnicity
Model Ethnicity Number of Test of association Test of heterogeneity Publication
studies OR 95% CI P‑value Adjusted Model P‑value I 2 bias P value
P value (Egger’s test)
Allele Asian 6 1.03 0.7219 – 1.4746 0.863739 1 Random 0.0001 0.8114 0.8372
Caucasian 1 0.47 0.2481 – 0.8903 *0.020528 0.1436 Fixed NA NA NA
Recessive Asian 6 1.84 0.8727 – 3.8904 0.108974 0.762 Random 0.0918 0.4719 0.9984
Caucasian 1 0.14 0.0072 – 2.6039 0.185833 1 Fixed NA NA NA
Dominant Asian 6 0.91 0.6468 – 1.2790 0.585645 1 Random 0.0034 0.7167 0.6606
Caucasian 1 0.43 0.2024 – 0.9158 *0.028638 0.200 Fixed NA NA NA
OD Asian 6 0.83 0.6986 – 0.9882 *0.036231 0.25 Fixed 0.1705 0.3549 0.1737
Caucasian 1 0.55 0.2573 – 1.1626 0.116761 0.817 Fixed NA NA NA
HR vs. HW Asian 6 1.73 0.7747 – 3.8759 0.180772 1 Random 0.058 0.5321 0.9276
Caucasian 1 0.10 0.0052 – 1.9605 0.129921 0.9094 Fixed NA NA NA
HR vs. HT Asian 6 2.04 1.2689 – 3.2989 *0.003313 0.023 Fixed 0.2127 0.2966 0.7948
Caucasian 1 0.21 0.0105 – 4.0584 0.299112 1 Fixed NA NA NA
HT vs. HW Asian 6 0.82 0.6274 – 1.0698 0.143154 1 Random 0.075 0.5005 0.3441
Caucasian 1 0.48 0.2257 – 1.0393 0.06276 0.439 Fixed NA NA NA
Note: *Indicates statitistical significance (P<0.05).
Abbreviations: CI: Confidence interval; HR: Homologous recombination; HT: Heterozygote; HW: Homozygous wild; NA: Not available;
OD: Overdominant; OR: Odds ratio; vs.: Versus.

Volume 4 Issue 3 (2025) 11 doi: 10.36922/gpd.5204