Abstract
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.
Highlights
Endometriosis is a debilitating disease characterized by the implantation of endometrial tissue outside the uterine cavity
In an attempt to answer this question, this study compared the genetic variants of three different oxidative stress enzymes (GPX4, TXN2 and TXNRD1) and evaluated if there is a difference in genotype and allele frequency between women with endometriosis and healthy controls
We compared the genetic variation of three antioxidant enzymes, GPX4, TXN2 and TXNRD1 and attempted to identify whether there is any difference in allele frequency between endometriosis and control patients
Summary
Endometriosis is a debilitating disease characterized by the implantation of endometrial tissue outside the uterine cavity. This study focused on a SNP of the TXN2 gene (rs4821494) and a SNP of the TXNRD1 (rs1128446), both have been reported to be overexpressed by cancer cells, but currently no strong evidence in relation to endometriosis. It is currently unknown whether the genetic polymorphisms of these oxidative stress enzymes play a role in development of endometriosis. In an attempt to answer this question, this study compared the genetic variants of three different oxidative stress enzymes (GPX4, TXN2 and TXNRD1) and evaluated if there is a difference in genotype and allele frequency between women with endometriosis and healthy controls
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