Singh Suman, Deo Sujata, Solanki Vandana, Nigam Nitu
Department of Obstetrics and Gynaecology, King George Medical University, Lucknow, Uttar Pradesh, India.
Ann Afr Med. 2025 Jul 1;24(3):579-585. doi: 10.4103/aam.aam_119_24. Epub 2025 May 30.
One of the typical benign gynecologic conditions in women of childbearing age is endometriosis, which can almost always lead to pelvic pain, infertility, and menstrual irregularities. The biochemical features of endometriosis focus on the folic acid and one-carbon cycle. Endometriosis cannot be diagnosed by a blood test. An important enzyme in the folate cycle is methylenetetrahydrofolate reductase (MTHFR). There are a number of variants in the MTHFR gene, but the C677T polymorphism has received the most attention and is associated with a number of diseases and problems.
To investigate the association between MTHFR (C677T) and MTR (A2756G) gene polymorphisms and the pathogenesis of endometriosis.
A total of 51 endometriosis cases and 51 healthy volunteers were genotyped for MTHFR (C677T) and MTR (A2756G) gene polymorphisms. Genotypes were determined by the polymerase chain reaction restriction fragment length polymorphism. The frequency of genotypes was analyzed by the Chi-square test and odds ratio for relative risk.
The frequencies of CC, CT, and TT genotypes of MTHFR C677T were 17.65%, 54.90%, and 27.45% in cases and 64.71%, 15.69%, and 19.61% in controls, respectively. In addition, the frequencies of the C and T alleles were 46.92% and 53.08% in cases and 72.55% and 27.45% in controls, respectively. The T-allele and the CT and TT genotypes of the MTHFR C677T gene polymorphism were significantly associated with cases. No significant association with cases was observed for the MTR A2756G gene polymorphism.
We conclude that the MTHFR C677T polymorphism was significantly associated with endometriosis, but the MTR A2756G polymorphism was not associated with endometriosis patients.
育龄期女性典型的良性妇科疾病之一是子宫内膜异位症，几乎总会导致盆腔疼痛、不孕和月经不调。子宫内膜异位症的生化特征集中在叶酸和一碳循环。子宫内膜异位症无法通过血液检测来诊断。叶酸循环中的一种重要酶是亚甲基四氢叶酸还原酶（MTHFR）。MTHFR基因存在多种变体，但C677T多态性受到的关注最多，且与多种疾病和问题相关。
探讨MTHFR（C677T）和MTR（A2756G）基因多态性与子宫内膜异位症发病机制之间的关联。
对51例子宫内膜异位症患者和51名健康志愿者进行MTHFR（C677T）和MTR（A2756G）基因多态性基因分型。通过聚合酶链反应-限制性片段长度多态性来确定基因型。采用卡方检验和相对危险度比值比分析基因型频率。
MTHFR C677T的CC、CT和TT基因型频率在病例组中分别为17.65%、54.90%和27.45%，在对照组中分别为64.71%、15.69%和19.61%。此外，C和T等位基因频率在病例组中分别为46.92%和53.08%，在对照组中分别为72.55%和27.45%。MTHFR C677T基因多态性的T等位基因以及CT和TT基因型与病例显著相关。未观察到MTR A2756G基因多态性与病例有显著关联。
我们得出结论，MTHFR C677T多态性与子宫内膜异位症显著相关，但MTR A2756G多态性与子宫内膜异位症患者无关。
