It has been reported that oxidative and nitrative stress might be the pathogenesis of endometriosis. This prospective case-control study attempted to check the connection between single nucleotide polymorphism (SNP) of three antioxidant enzymes (glutathione peroxidase 4 (GPX4), thioredoxin 2 (TXN2), thioredoxin reductase 1 (TXNRD1)) and endometriosis. We recruited 90 patients with histology-approved endometriosis as the case group and 130 age-matched women for an annual pap smear examination as the control group. The stage of endometriosis was evaluated with revised ASRM score. Both groups were genotyped in the peripheral leukocytes for the SNP of GPX4 (rs713041), TXN2 (rs4821494) and TXNRD1 (rs1128446) by PCR-based methods. An X2 test was used to analysis of the difference of allele frequency and SNP distribution between two groups. The results revealed GPX4 (rs713041) has a significantly different distribution between two groups (C:T = 116 (44.6%):144 (55.4%) in control and C:T = 104 (57.8%): 76 (42.2%) in endometriosis groups, p = 0.007). The SNP in TXN2 (rs4821494) also showed a difference in allele frequency (G:T = 180 (69.2%):80 (30.8%) in control and G:T = 141 (78.3%):39 (21.6%) in endometriosis group, p = 0.030). In addition, the SNP GPX4 (rs713041) was associated with the severity of the endometriosis. Women who have advanced stage endometriosis were different from mild endometriosis in genetic variants of GPX4 gene (p = 0.001). In conclusion, the relationship between endometriosis and SNP of antioxidant enzymes, GPX4 and TXN2, was confirmed by the present study. According to the result, we suggested that the GPX4 might contribute to the pathogenesis of endometriosis.
Keywords: endometriosis; glutathione peroxidase; oxidative stress; single nucleotide polymorphism; thioredoxin; thioredoxin reductase.