Evaluation of Tumor Necrosis Factor Alpha Polymorphism Frequencies in Endometriosis

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.

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.

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.

The -1031 T/C polymorphism and CC genotype can be used as a relevant marker to identify women at risk of developing endometriosis.