Association between tumor necrosis factor-α gene-1031T/C promoter polymorphism and endometriosis in a European population

: Background Tumor necrosis factor-alpha (TNF-α) is a pro-inflammatory cytokine which plays an important role in the pathogenesis of many diseases. Endometriosis is one of the most common gynecological diseases. The purpose of this study was to investigate the association of TNF-α-1031T/C polymorphism with the genetic susceptibility of endometriosis in a European population. Materials and methods In this case-control study, 51 endometriosis patients and 67 healthy control women participated. We used endometrial tissue from the patients and peripheral blood from the healthy women to extract DNA. Polymerase chain reaction (PCR) analysis and the restriction enzyme Bbs I were used to analyze the -1031 T/C polymorphism in the TNF-α gene promoter region. Statistical analysis was performed using Fisher's exact test. We also calculated the odds ratios. Results In the group of patients, 66.7% of women were detected with the TT genotype, 33.3% with the TC genotype and 0% with the CC genotype while in the control group, 46.3% had the TT genotype, 47.8% had the TC genotype and 6% had the CC genotype. There was a significant association between the TT genotype with endometriosis (p = 0.03). There was no significant deviation from the Hardy-Weinberg equilibrium. Conclusions The TC and CC genotypes appeared more often in the healthy women than the endometriosis patients and this shows that the C allele might have a protective role in endometriosis in the Greek population. Further studies are needed to specify the role of this polymorphism in pathogenesis of endometriosis and the mechanisms that protect the patients from the disease.