The Association between TNF-alpha Gene Polymorphisms and Endometriosis in An Iranian Population.

Babak Babaabasi, Ali Ahani, Faegheh Sadeghi, Haniyeh Bashizade-Fakhar, Hamid Reza Khorram Khorshid
International journal of fertility & sterility · 2019 · vol. 13(1) , pp. 6–11 · doi:10.22074/ijfs.2019.5542 · PMID:30644238 · W3021044829
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study investigated four TNF-α gene polymorphisms and found the -863 A allele may be associated with a reduced incidence of endometriosis in Iranian women.

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This case-control study evaluated whether four TNF-α promoter polymorphisms (-238G/A, -308G/A, -857C/T, and -863C/A) are associated with endometriosis susceptibility in an Iranian population. DNA from blood samples of 150 women with endometriosis and 150 women without endometriosis was genotyped using PCR-RFLP, and allele/genotype associations were tested, including adjustments for age and BMI. A significant difference was reported for the -863C/A allele (OR=0.64, P=0.047), but it was not significant after multiple-testing adjustment (P=0.188), and no significant differences were found for the other three polymorphisms; the only additional association noted was between case/control status and BMI when adjusting by age. Relevance to endometriosis: the paper is centrally about endometriosis, specifically testing TNF-α gene polymorphisms in an Iranian cohort.

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Abstract

BACKGROUND: Tumor necrosis factor-alpha (TNF-α) is an important cytokine in acute inflammatory response to infective factors. Based on investigation in different populations, it is thought that this response increases in patients with endometriosis due to the presence of cytokines such as TNF-α. This study aimed to examine the association of four TNF-α polymorphisms, namely -238G/A, -308G/A, -857C/T and -863C/A, with susceptibility to endometriosis in an Iranian population. MATERIALS AND METHODS: We recruited 150 women with endometriosis and 150 women without endometriosis in this case-control study and collected 4 ml of blood from all subjects. After DNA extraction, the polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The allele frequency of TNF-α -863C/A in the case and control groups showed a significant difference [odds ratios (OR)=0.64, 95% confidence interval (CI)=0.41-0.99, P=0.047] but the result is not significant when Adjusting for multiple testing (P=0.188). No significant difference in the allele frequencies of -238G/A (OR=1.07, 95% CI=0.51-2.25, P=0.862), -308G/A (OR=0.79, 95% CI=0.43-1.45, P=0.438) and -857C/T (OR=1.03, 95% CI=0.66- 1.61, P=0.887) was observed. We adjusted all four polymorphism genotypes by age and body mass index (BMI), however, no significant difference was detected. There was an association between the case and control and BMI when adjusting by age (OR=1.082, 95% CI=1.009-1.162, P=0.028). CONCLUSION: For the first time the association of the four polymorphisms in the promoter region of the TNF-α gene with endometriosis has been conducted in women of Iranian origin. The present research reveals the -863 A allele may play a role in incidence of endometriosis among Iranian women. Development of endometriosis among those people with -863 A allele seems low. According to the results, the current study indicates that there might be a correlation between BMI and progression of endometriosis.
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International Journal of Fertility and Sterility (Apr 2019) The Association between TNF-alpha Gene Polymorphisms and Endometriosis in An Iranian Population Abstract Background Tumor necrosis factor-alpha (TNF-α) is an important cytokine in acute inflammatory response to infective factors. Based on investigation in different populations, it is thought that this response increases in patients with endometrio- sis due to the presence of cytokines such as TNF-α. This study aimed to examine the association of four TNF-α polymor- phisms, namely -238G/A, -308G/A, -857C/T and -863C/A, with susceptibility to endometriosis in an Iranian population. Materials and Methods We recruited 150 women with endometriosis and 150 women without endometriosis in this case-control study and collected 4 ml of blood from all subjects. After DNA extraction, the polymorphisms were geno- typed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The allele frequency of TNF-α -863C/A in the case and control groups showed a significant difference [odds ratios (OR)=0.64, 95% confidence interval (CI)=0.41-0.99, P=0.047] but the result is not significant when Adjust- ing for multiple testing (P=0.188). No significant difference in the allele frequencies of -238G/A (OR=1.07, 95% CI=0.51-2.25, P=0.862), -308G/A (OR=0.79, 95% CI=0.43-1.45, P=0.438) and -857C/T (OR=1.03, 95% CI=0.66- 1.61, P=0.887) was observed. We adjusted all four polymorphism genotypes by age and body mass index (BMI), however, no significant difference was detected. There was an association between the case and control and BMI when adjusting by age (OR=1.082, 95% CI=1.009-1.162, P=0.028). Conclusion For the first time the association of the four polymorphisms in the promoter region of the TNF-α gene with endometriosis has been conducted in women of Iranian origin. The present research reveals the -863 A allele may play a role in incidence of endometriosis among Iranian women. Development of endometriosis among those people with -863 A allele seems low. According to the results, the current study indicates that there might be a correlation between BMI and progression of endometriosis. Keywords

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