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Gene & Protein in Disease TNFA polymorphism and risk of endometriosis

A

B

C

Figure 1. Schematic overview of the tumor necrosis factor-alpha (TNF-α) gene and protein. (A) The TNFA gene, located on chromosome 6 (6p21.3), spans
approximately 3 kb and composed of four distinct exons. (B) This gene encodes a 233 amino acid transmembrane protein, which serves a crucial role as a
pro-inflammatory cytokine. (C) Following proteolytic cleavage, the soluble homotrimeric TNF-α is released, binds to the tumor necrosis factor receptor
(TNFR), and initiates vital signaling pathways.
Abbreviations: Chr: Chromosome; TM: Transmembrane; UTR: Untranslated region.

Table 1. Variant information and associated functional effects
No. Variant name Variant type rsID Nucleotide change Molecular position Functional effect MAF (dbSNP‑global)
1 -238 G>A SNV rs361525 G>A chr6:31575324 UTV A=0.053030
2 -308 G>A SNV rs1800629 G>A chr6:31575254 UTV A=0.152040
3 -850 C>T SNV - C>T - UTV -
4 -857 C>T SNV rs1799724 C>T chr6:31574705 UTV T=0.121348
5 -863 C>A SNV rs1800630 C>A chr6:31574699 UTV A=0.152603
6 -1031 T>C SNV rs1799964 T>C chr6:31574531 UTV C=0.211341
Abbreviations: chr: Chromosome; dbSNP: Single Nucleotide Polymorphism database; MAF: Minor allele frequency; SNV: Single nucleotide variation;
UTV: Upstream transcript variant; rsID: Reference SNP cluster ID.

Table 2. Inclusion and exclusion criteria
No. Inclusion criteria Exclusion criteria
1 Studies on the genetic association between tumor necrosis Review articles, editorials, commentaries, or conference abstracts.
factor-alpha (TNFA) variants and endometriosis risk.
2 Research articles published in peer-reviewed journals. Studies not focused on TNFA variants or endometriosis risk.
3 Studies involving human subjects. Non-human studies or in vitro studies.
4 Studies reporting genotypic or allelic frequencies of TNFA variants. Studies lacking sufficient data on TNFA variants or endometriosis risk.
5 Research employing case-control or cohort study designs. Research with inadequate sample size or statistical power.
6 Studies with clearly defined diagnostic criteria for endometriosis. Studies lacking clear methodology or diagnostic criteria for endometriosis.
7 Articles that provide sufficient data for calculating odds ratios Articles with duplicated data or overlapping study populations.
with 95% confidence intervals.

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