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N5,10-亚甲基四氢叶酸还原酶基因多态性与宁夏回族原发性高血压的关系

刘海燕,陈淑萍,马萍,徐清斌   

  1. 宁夏医科大学附属医院
  • 收稿日期:2011-04-15 修回日期:2011-07-24 出版日期:2011-12-15 发布日期:2011-12-15
  • 通讯作者: 刘海燕

The association between Gene Polymorphisms of N5, 10-Methylenetetrahydrofolate Reductase and Hui Nationality Patients with Essential Hypertension in Ningxia

  • Received:2011-04-15 Revised:2011-07-24 Published:2011-12-15 Online:2011-12-15

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摘要： 摘要 目的：探讨N5,10-亚甲基四氢叶酸还原酶基因（MTHFR）C677T位点突变与宁夏回族人群原发性高血压(EH)之间的关系。方法：收集原发性高血压病患者(EH)146例，健康体检正常血压者(NT)112例，抽外周静脉血提取DNA，采用聚合酶链反应-限制性片段长度(PCR-RFLP)多态性技术检测MTHFR基因多态性。结果：EH组和NT组CC、CT和TT基因型总体分布频率差异有统计学意义(P<0.05)，EH组TT基因型频率及T等位基因频率均高于NT组，差异有统计学意义(P<0.05)。CC基因型组和CT/TT基因型组舒张压差异无统计学意义（P>0.05），但收缩压、脉压和平均动脉压CT/TT基因型组高于CC基因型组，差异有统计学意义（P<0.05）。二项逐步Logistic回归结果显示，CT+TT基因型、女性、BMI、TG、BUN增高为EH的危险因素。结论：MTHFR基因C677T多态性可能与宁夏回族EH发病有关，T等位基因有可能是宁夏回族人群EH的易感基因。

关键词: 亚甲基四氢叶酸脱氢酶(NADP), 高血压, 多态现象, 遗传, 等位基因, 基因频率, 多态性, 限制性片段长度

Abstract: Abstract Objective: To investigate the association between C667T point mutation of N5, 10-methylenetetrahydrofolate reductase (MTHFR) and Hui nationality patients with essential hypertension in Ningxia. Methods: The study was performed in 146 patients with essential hypertensive (EH) and 112 normotensive (NT) control subjects. Blood samples of two groups were collected and then DNA was extracted. MTHFR gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequencies of three genotypes (CC, CT and TT) showed statistics differences between EH group and NT group (P<0.05). The frequency of genotype 677TT and T allele were significantly higher in patients of EH group than those of NT group (P<0.05). There was no significant difference in diastolic blood pressure between CC genotype group and CT/TT genotype group (P>0.05), but there were significantly higher systolic blood pressure, pulse pressure and mean arterial pressure in CT/TT genotype group than those of CC genotype group (P<0.05). Binary stepwise logistic regression analysis showed that CT+TT genotype, female, body mass index (BMI), triacylglycerol (TG) and urea nitrogen (BUN) were independent risk factors for essential hypertension. Conclusion: There is a correlation between MTHFR C677T gene polymorphism and essential hypertension in patients of Ningxia Hui nationality. The T allele may be the susceptible gene of essential hypertension in Ningxia Hui nationality.

Key words: 限制性片段长度