亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与多囊卵巢综合征女性的高脂血症有关。
MTHFR C677T polymorphism is associated with hyperlipidemia in women with polycystic ovary syndrome.
作者信息
Jain Madhu, Pandey Priyanka, Tiwary Narendra K, Jain Shuchi
机构信息
Department of Obstetrics and Gynaecology, IMS, BHU, Varanasi, India.
出版信息
J Hum Reprod Sci. 2012 Jan;5(1):52-6. doi: 10.4103/0974-1208.97802.
CONTEXT
Women with polycystic ovary syndrome (PCOS) are prone for coronary artery disease (CAD), and hyperhomocysteinemia is an independent risk factor for CAD. MTHFR deficiency is the most common cause of hyperhomocysteinemia, thereby provoking a possible association between PCOS and MTHFR C677T polymorphism.
AIMS
The aim of this study was to investigate an association of MTHFR C677T polymorphism with PCOS.
SETTINGS AND DESIGN
92 women with PCOS (Rotterdam criteria) and 95 age-matched controls were compared with respect to MTHFR C677T polymorphism. The 2 genotypes (CC and CT) obtained were compared with clinical and laboratory parameters in women with PCOS.
MATERIALS AND METHODS
In a case-control study, clinical, biochemical, hormonal and genetic analysis (PCR-RFLP of peripheral leucocytes) was carried out on all women with PCOS as well as controls.
STATISTICAL ANALYSIS
Student "t" test for quantitative and Chi-square test for nominal variables was used. For estimation of risk, odds ratio and 95% confidence interval were calculated.
RESULTS
The odds ratio of bearing a heterozygous genotype (CT) was 1.32 in women with PCOS as compared to controls (P = 0.48). No homozygous mutation (TT) was found in the study population. Serum cholesterol was more in heterozygous (CT) genotype (215.48 ± 25.56 mg/dl) as compared to normal (CC) genotype (203.29 ± 16.35 mg/dl) in women with PCOS (P = 0.01). Similarly, serum triglyceride was more in heterozygous (CT) genotype (95.86 ± 37.34 mg/dl) as compared to normal (CC) genotype (82.36 ± 20.88 mg/dl) in women with PCOS (P = 0.04).
CONCLUSIONS
Although not statistically significant, there is a slightly higher prevalence of heterozygous (CT) genotype in women with PCOS. MTHFR C677T polymorphism when present may confer an increased susceptibility to develop hyperlipidemia in women with PCOS. More prospective studies are needed to confirm whether this hyperlipidemia due to MTHFR C677T polymorphism clinically manifests into CAD in long term in women with PCOS.
背景
多囊卵巢综合征（PCOS）女性易患冠状动脉疾病（CAD），高同型半胱氨酸血症是CAD的独立危险因素。亚甲基四氢叶酸还原酶（MTHFR）缺乏是高同型半胱氨酸血症最常见的病因，因此引发了PCOS与MTHFR C677T基因多态性之间可能存在的关联。
目的
本研究旨在调查MTHFR C677T基因多态性与PCOS之间的关联。
设置与设计
比较92例符合鹿特丹标准的PCOS女性和95例年龄匹配的对照者的MTHFR C677T基因多态性。将获得的两种基因型（CC和CT）与PCOS女性的临床和实验室参数进行比较。
材料与方法
在一项病例对照研究中，对所有PCOS女性以及对照者进行临床、生化、激素和基因分析（外周血白细胞的聚合酶链反应-限制性片段长度多态性分析）。
统计分析
采用学生“t”检验进行定量分析，采用卡方检验分析名义变量。为评估风险，计算比值比和95%置信区间。
结果
与对照组相比，PCOS女性携带杂合基因型（CT）的比值比为1.32（P = 0.48）。研究人群中未发现纯合突变（TT）。PCOS女性中，杂合（CT）基因型的血清胆固醇（215.48±25.56mg/dl）高于正常（CC）基因型（203.29±16.35mg/dl）（P = 0.01）。同样，PCOS女性中，杂合（CT）基因型的血清甘油三酯（95.86±37.34mg/dl）高于正常（CC）基因型（82.36±20.88mg/dl）（P = 0.04）。
结论
虽然无统计学意义，但PCOS女性中杂合（CT）基因型的患病率略高。存在MTHFR C677T基因多态性时，可能会使PCOS女性患高脂血症的易感性增加。需要更多前瞻性研究来证实，PCOS女性中由MTHFR C677T基因多态性导致的高脂血症长期来看在临床上是否会发展为CAD。
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