亚甲基四氢叶酸还原酶基因多态性与埃及多囊卵巢综合征妇女的胰岛素抵抗有关。
Genetic polymorphism of methylenetetrahydrofolate reductase is associated with insulin resistance in Egyptian women with polycystic ovary syndrome.
机构信息
Internal Medicine Department, Faculty of Medicine, Zagazig University, Egypt.
Clinical Pathology Department, Faculty of Medicine, Zagazig University, Egypt.
出版信息
J Gene Med. 2019 Apr;21(4):e3076. doi: 10.1002/jgm.3076. Epub 2019 Mar 4.
BACKGROUND
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).
METHODS
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.
RESULTS
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).
CONCLUSIONS
We have demonstrated an association of the MTHFR 677C>T gene polymorphism with insulin resistance in Egyptian women with PCOS.
背景
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。
方法
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。
结果
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）。
结论
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。
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