PhD School of Medicine, University of Medicine, Pharmacy, Science and Technology "George Emil Palade" Targu Mures, 540139 Targu Mures, Romania.
Department of Obstetrics and Gynecology, Emergency County Hospital Hunedoara, 331057 Hunedoara, Romania.
Medicina (Kaunas). 2022 Aug 15;58(8):1105. doi: 10.3390/medicina58081105.
Background and Objectives: Endometriosis is a benign inflammatory disease associated with infertility and chronic pelvic pain, estimated to affect 7−10% of reproductive-age women, with the possibility of malignant transformation. Recent studies focus on oxidative stress and genetic mutations as risk factors in the pathophysiology of endometriosis-associated infertility. Materials and Methods: This case-control study is the first in Eastern European women that aimed to investigate four genes’ genetic polymorphisms that encode antioxidant enzymes involved in oxidative stress (glutathione peroxidase 1, GPX1 198Pro > Leu, catalase CAT-262C > T, glutathione S-transferase M1, and T1 null genotype) and their association with endometriosis-related infertility. We compared 103 patients with endometriosis-associated infertility with 102 post-partum women as the control group. Results: The endometriosis group had a mean age of 34.5 +/− 6.12 years, while the control group’s mean age was 35.03 +/− 5.95 years. For CAT-262C > T polymorphism, the variant genotypes were significantly more frequent in the endometriosis group. Moreover, for the GPX1 198Pro > Leu, the endometriosis group had significantly more frequent CT and TT genotypes. The null genotype of GSTM1 was detected significantly higher in the endometriosis group. No significant differences were found in the frequency of GSTT1 between the two groups. This study suggests that GPX1 198Pro > Leu, CAT-262C > T, and GSTM1 polymorphisms may be risk factors and that the association between the GSTM1-GSTT1 null genotype may play a significant role in endometriosis-associated infertility. Moreover, this study suggests that the GSTT1 null genotype does not influence the disease. Visual identification of endometriotic lesions with microscopic confirmation is the accepted gold standard for diagnosing endometriosis, but general anesthesia and laparoscopy are required. Conclusions: In this regard, a panel of genetic or laboratory markers is needed for the early diagnostics of this prevalent disease, especially in the case of young patients with future pregnancy intention.
子宫内膜异位症是一种良性炎症性疾病，与不孕和慢性盆腔疼痛有关，据估计，其影响了 7-10%的育龄妇女，且存在恶变的可能。最近的研究集中在氧化应激和遗传突变作为子宫内膜异位症相关不孕的病理生理学中的危险因素。
这是东欧首例旨在研究四种编码参与氧化应激的抗氧化酶的基因遗传多态性（谷胱甘肽过氧化物酶 1、GPX1 198Pro > Leu、过氧化氢酶 CAT-262C > T、谷胱甘肽 S-转移酶 M1 和 T1 无效基因型）及其与子宫内膜异位症相关不孕的关系的病例对照研究。我们比较了 103 例子宫内膜异位症相关不孕患者与 102 例产后妇女作为对照组。
子宫内膜异位症组的平均年龄为 34.5 +/− 6.12 岁，而对照组的平均年龄为 35.03 +/− 5.95 岁。对于 CAT-262C > T 多态性，变体基因型在子宫内膜异位症组中更为常见。此外，对于 GPX1 198Pro > Leu，子宫内膜异位症组 CT 和 TT 基因型更为常见。GSTM1 的无效基因型在子宫内膜异位症组中检测到的频率明显更高。两组间 GSTT1 的频率无显著差异。本研究表明，GPX1 198Pro > Leu、CAT-262C > T 和 GSTM1 多态性可能是危险因素，并且 GSTM1-GSTT1 无效基因型的关联可能在子宫内膜异位症相关不孕中起重要作用。此外，本研究表明 GSTT1 无效基因型不影响疾病。经显微镜确认的子宫内膜异位病变的肉眼识别是诊断子宫内膜异位症的公认金标准，但需要全身麻醉和腹腔镜检查。
在这方面，需要一组遗传或实验室标记物来对这种普遍疾病进行早期诊断，特别是对于有未来妊娠意向的年轻患者。
