Gynecologic Section, Department of Odontostomatologic and Specialized Clinical Sciences, Università Politecnica delle Marche, 60213 Ancona, Italy.
Section of Biochemistry, Biology and Physics, Department of Odontostomatologic and Specialized Clinical Sciences, Università Politecnica delle Marche, 60126 Ancona, Italy.
Int J Mol Sci. 2023 Oct 20;24(20):15404. doi: 10.3390/ijms242015404.
This study was conducted to evaluate the role of methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism as a risk factor for endometriosis. A retrospective case-control study was conducted from January 2020 to December 2022 on all patients attending the gynecological outpatient clinic of our institution who had performed an MTHFR polymorphisms test. Patients with endometriosis were considered cases, while those without endometriosis were considered controls. The presence of an MTHFR C677T homozygous polymorphism was defined as exposure. Risk factors for endometriosis were considered confounders in a binomial logistic regression, with endometriosis diagnosis as the dependent variable. Among the 409 included patients, 106 (25.9%) cases and 303 (74.1%) controls were identified. A higher rate of MTHFR C677T homozygous polymorphism was found in patients with endometriosis (24.5% vs. 15.8%, = 0.0453), with an adOR of 1.889 (95% CI 1.076-3.318, = 0.0269) at the binomial logistic regression. A history of no previous pregnancy was associated with an endometriosis diagnosis (adOR 2.191, 95% CI 1.295-3.708, = 0.0035). An MTHFR C677T homozygous polymorphism could be considered a risk factor for endometriosis. Epigenetic modifications may be the most important mechanism explaining the observed association through the processes of altered DNA methylation and reduced activity of antioxidant systems.
本研究旨在评估亚甲基四氢叶酸还原酶（MTHFR）C677T 纯合突变作为子宫内膜异位症风险因素的作用。这是一项回顾性病例对照研究，于 2020 年 1 月至 2022 年 12 月在我院妇科门诊对所有进行 MTHFR 多态性检测的患者进行。患有子宫内膜异位症的患者被视为病例，而无子宫内膜异位症的患者被视为对照。存在 MTHFR C677T 纯合突变被定义为暴露。在二项逻辑回归中，将子宫内膜异位症的诊断作为因变量，将子宫内膜异位症的诊断作为因变量，将子宫内膜异位症的诊断作为因变量，将子宫内膜异位症的诊断作为因变量。在纳入的 409 例患者中，发现 106 例（25.9%）病例和 303 例（74.1%）对照存在 MTHFR C677T 纯合突变。病例组中 MTHFR C677T 纯合突变的发生率较高（24.5%比 15.8%， = 0.0453），二项逻辑回归的优势比（OR）为 1.889（95%可信区间 1.076-3.318， = 0.0269）。无既往妊娠史与子宫内膜异位症的诊断相关（OR 2.191，95%可信区间 1.295-3.708， = 0.0035）。MTHFR C677T 纯合突变可能是子宫内膜异位症的一个风险因素。表观遗传修饰可能是通过改变 DNA 甲基化和降低抗氧化系统活性来解释观察到的关联的最重要机制。
