Internal Medicine Department, Faculty of Medicine, Zagazig University, Egypt.
Clinical Pathology Department, Faculty of Medicine, Zagazig University, Egypt.
J Gene Med. 2019 Apr;21(4):e3076. doi: 10.1002/jgm.3076. Epub 2019 Mar 4.
A common polymorphism (677C to T; Ala to Val) in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased specific MTHFR activity and elevation of homocysteine. The present study aimed to investigate the association between a single nucleotide polymorphism (SNP) in the MTHFR 677C>T gene and insulin resistance in women with polycystic ovary syndrome (PCOS).
Two-hundred patients with PCOS were included in this case-control study: 100 patients with insulin resistance and 100 patients without insulin resistance were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis.
The TT genotype for the MTHFR 677C>T polymorphism was significantly more frequent in PCOS patients with insulin resistance than in PCOS patients without insulin resistance (19% versus 6%, p = 0.002), whereas there was no significant difference between both groups for CT and there was a statistically significant increase in the T allele in PCOS patients with insulin resistance compared to PCOS patients without insulin resistance (p = 0.002, odds ratio = 1.95 and 95% confidence interval = 1. 29-2.93). Regarding the relationship between MTHFR 677C>T genotypes and the characteristics of insulin resistance in PCOS patients, we found that there was no significant difference in age, waist-hip ratio and total testosterone between the different genotypes of the MTHFR 677C>T polymorphism. The mean values for body mass index and the Homeostatic Model Assessment of Insulin Resistance were significantly higher in the TT genotype of MTHFR 677C>T compared to the CC genotype in PCOS patients with insulin resistance (p < 0.001).
We have demonstrated an association of the MTHFR 677C>T gene polymorphism with insulin resistance in Egyptian women with PCOS.
亚甲基四氢叶酸还原酶（MTHFR）基因中的常见多态性（677C 到 T；丙氨酸到缬氨酸）与特定 MTHFR 活性降低和同型半胱氨酸升高有关。本研究旨在探讨 MTHFR 677C>T 基因中的单核苷酸多态性（SNP）与多囊卵巢综合征（PCOS）女性胰岛素抵抗之间的关系。
本病例对照研究纳入了 200 例 PCOS 患者：100 例胰岛素抵抗患者和 100 例无胰岛素抵抗患者通过聚合酶链反应-限制性片段长度多态性分析进行基因分型。
MTHFR 677C>T 多态性的 TT 基因型在胰岛素抵抗的 PCOS 患者中明显比无胰岛素抵抗的 PCOS 患者更常见（19%比 6%，p=0.002），而 CT 两组之间无显著差异，且胰岛素抵抗的 PCOS 患者中 T 等位基因明显高于无胰岛素抵抗的 PCOS 患者（p=0.002，优势比=1.95，95%置信区间=1.29-2.93）。关于 MTHFR 677C>T 基因型与 PCOS 患者胰岛素抵抗特征之间的关系，我们发现 MTHFR 677C>T 多态性不同基因型之间的年龄、腰臀比和总睾酮无显著差异。与 CC 基因型相比，胰岛素抵抗的 PCOS 患者中 MTHFR 677C>T 的 TT 基因型的体重指数和稳态模型评估的胰岛素抵抗的平均值明显更高（p<0.001）。
我们已经证明了 MTHFR 677C>T 基因多态性与埃及 PCOS 女性胰岛素抵抗有关。
