Evaluation of Tumor Necrosis Factor Alpha Polymorphism Frequencies in Endometriosis.

Roshanak Abutorabi, Azar Baradaran, Fatemeh Sadat Mostafavi, Firoozeh Mostafavi, Yasaman Zarrin, Farahnaz Mardanian
International journal of fertility & sterility · 2015 · vol. 9(3) , pp. 329–37 · doi:10.22074/ijfs.2015.4548 · PMID:26644856 · W2269602359
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This case-control study found a strong association between the -1031 T/C polymorphism in the TNF-α gene promoter region and endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

This case-control study evaluated whether promoter polymorphisms in the TNF-α gene (-1031 T/C, -238 G/A, and -308 G/A) are associated with endometriosis by enrolling 65 women with endometriosis and 65 matched healthy controls. TNF-α variants were genotyped using PCR, and chi-square testing assessed differences in allele/genotype frequencies. The authors found a strong association for the -1031 T/C polymorphism with endometriosis (P=0.001), while -238 G/A and -308 G/A showed no significant associations, including no association with endometriosis stage. The paper’s main limitation is that it analyzes only these promoter polymorphisms in a relatively small matched sample and does not report broader mechanistic or replication validation. This paper is centrally about endometriosis — it tests TNF-α promoter polymorphism frequencies (-1031 T/C) for association with endometriosis risk.

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Abstract

BACKGROUND: The pro-inflammatory cytokine, tumor necrosis factor-alpha (TNF-α), is a pathogenic element for a number of disorders. Previous studies have reported that the -1031 T/C and -238 G/A polymorphisms in the promoter region of the TNF-α gene are important factors in reproductive-related disorders. One of the most common gynecological diseases of women during the reproductive years is endometriosis. This study aims to assess an association between the -1031 T/C, -238 G/A and -308 G/A polymorphisms of the TNF-α gene promoter region to endometriosis. MATERIALS AND METHODS: In this case-control study, we enrolled 65 endometriosis patients and 65 matched healthy control women by simple sampling. Polymerase chain reaction (PCR) analysis was used to analyze -1031 T/C, -238 G/A and -308 G/A polymorphisms in the TNF-α gene promoter region. Statistical analysis was performed using the chi-square test. P values less than 0.05 were considered statistically significant. RESULTS: We found a strong association between the -1031 T/C polymorphism in the promoter region of the TNF-α gene with endometriosis (P=0.001). There were no significant associations between the -238 G/A (P=0.243) and -308 G/A (P=1) polymorphisms with endometriosis and again endometriosis stages have no association with these polymorphisms. CONCLUSION: The -1031 T/C polymorphism and CC genotype can be used as a relevant marker to identify women at risk of developing endometriosis.
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International Journal of Fertility and Sterility (Oct 2015) Evaluation of Tumor Necrosis Factor Alpha Polymorphism Frequencies in Endometriosis Abstract Background The pro-inflammatory cytokine, tumor necrosis factor-alpha (TNF-α), is a pathogenic element for a number of disorders. Previous studies have reported that the -1031 T/C and -238 G/A polymorphisms in the promoter region of the TNF-α gene are important factors in reproductive-related disorders. One of the most common gynecological diseases of women during the reproductive years is endometriosis. This study aims to assess an association between the -1031 T/C, -238 G/A and -308 G/A polymorphisms of the TNF-α gene promoter region to endometriosis. Materials and Methods In this case-control study, we enrolled 65 endometriosis patients and 65 matched healthy control women by simple sampling. Polymerase chain reaction (PCR) analysis was used to analyze -1031 T/C, -238 G/A and -308 G/A polymorphisms in the TNF-α gene promoter region. Statistical analysis was performed using the chi-square test. P values less than 0.05 were considered statistically significant. Results We found a strong association between the -1031 T/C polymorphism in the promoter region of the TNF-α gene with endometriosis (P=0.001). There were no significant associations between the -238 G/A (P=0.243) and -308 G/A (P=1) polymorphisms with endometriosis and again endometriosis stages have no association with these polymorphisms. Conclusion The -1031 T/C polymorphism and CC genotype can be used as a relevant marker to identify women at risk of developing endometriosis. Keywords

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