亚甲基四氢叶酸还原酶C677T基因多态性与青海西宁地区汉族人群原发性高血压患者动脉顺应性的相关性研究

Study on the association of gene polymorphism of Methylene-tetrahydrofolate reductase C677T and essential hypertension between han people in Xining, Qinghai region

目的探讨亚甲基四氢叶酸还原酶（MTHFR） C677T基因多态性与青海西宁地区汉族人群原发性高血压及动脉顺应性的相关性。方法对2012年8月至2014年7月于青海大学附属医院114例原发性高血压患者（原发性高血压组）和104例年龄匹配的正常对照者（正常对照组），采用聚合酶链反应和限制性片段长度多态性分析技术进行基因多态性分析，采用3%琼脂凝胶电泳判断基因型及测序，并测定肱踝动脉脉搏波速度（baPWV）、踝臂指数。结果原发性高血压组TT基因型及T等位基因频率明显高于正常对照组［28.1%（32/114）和75.4%（86/114）比25.0%（26/104）和64.4%（67/104）］，差异有统计学意义（P=0.018和0.002）；原发性高血压组血氧饱和度明显低于正常对照组［（90±3）%比（92±2）%，P〈0.05］。CC基因型中原发性高血压组baPWV明显高于正常对照组［（16.2±3.8）m/s比（12.8±1.7） m/s］，踝臂指数明显高于正常对照组（1.21±0.13比1.10±0.13），差异均有统计学意义（均P〈0.05）；TT＋TC基因型组中原发性高血压组baPWV明显高于正常对照组［（16.9±3.0）m/s比（12.9±3.0） m/s］，踝臂指数明显高于正常对照组（1.27±0.18比1.16±0.12），差异均有统计学意义（均P〈0.05）。原发性高血压组 TT＋TC基因型baPWV和踝臂指数明显高于CC基因型［（16.9±3.0）m/s比（16.2±3.8）m/s，1.27±0.18比1.21±0.13，P〈0.05］；正常对照组 TT＋TC基因型踝臂指数明显高于CC基因型（1.16±0.12比1.10±0.13），差异有统计学意义（P〈0.05）。结论MTHFR C677T 多态性与青海西宁地区原发性高血压发病有关, MTHFR C677T 等位基因可能是高血压动脉硬化的遗传因素，而在高原低氧因素下可能进一步增加发病率。

ObjectiveTo study the relation of Methylenetetrahydrofolate reductase（MTHFR） gene C677T polymorphism and essential hypertension （EH） among han population in xining, qinghai region.MethodsThe study was performed in 114 patients with essential hypertension and 104 age matched normal control in department of Cardiology and Geriatrics in the Affiliated Hospital of Qinghai University from August 2012 to July 2014. MTHFR gene C677T polymorphism was analyzed by Polymerase Chain ReactionRestriction Fragment Length Polymorphism（PCRRFLP） and characterized by electrophoresis and sequencing, brachialankle arterial pulse wave velocity （BaPWV）, anklebrachial index （ABI） were also investigated. ResultsIn essential hypertension group the frequencies of TT genotype and T allele were significantly higher than those of normal control group（28.1% vs 25% and 75.4% vs 64.4% P〈0.05）.Essential hypertension group oxygen saturation were Obviously lower than the control group [（90±30% vs （92±2）%,P〈0.05]. Essential hypertension group the BaPWV higher than those of normal control group in the CC genotype[（16.2±3.8）m/s vs （12.8±1.7） m/s,P〈0.05],and the ABI was significantly higher than those of normal control group[（1.21±0.13） vs （1.10±0.13）,P〈0.05]. In TT＋TC genotype the essential hypertension group baPWV was significantly higher than those of normal control group,[（16.9±3.0） m/s vs（12.9±3.0）m/s,P〈0.05], and ABI was significantly higher than those of normal control group [（1.27±0.18） vs （1.16±0.12）,P〈0.05]. In Essential hypertension group TT＋TC genotype′s baPWV was significantly higher than CC genotype′s[（16.9±3.0） m/s vs （16.2±3.8）m/s,P〈0.05], and the ABI was significantly higher than CC genotype′s[（1.27±0.18） vs （1.21±0.13）,P〈0.05];6.In control group TT＋TC genotype′s ABI was significantly higher than CC genotype′s[（1.16±0.12）vs（1.10±0.13）,P〈0.05].