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亚甲基四氢叶酸还原酶基因C677T多态性与高血压及心脏结构功能的相关性 预览 被引量:10

Relationships between the polymorphism of methylenetetrahydrofolate reductase gene C677T and hypertension, cardiac structure and function
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摘要 目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与原发性高血压的相关性,以及对高血压患者心脏结构和功能的影响。方法 对695例高血压病患者和509例年龄匹配的正常对照者采用PCR-RFLP方法进行基因多态性分析,电泳判断基因型并测序,并对高血压患者进行超声心动图测定。结果 高血压组TT基因型频率和T等位基因频率显著高于正常对照组(26.5%vs20.6%,48.7%vs42.4%,P=0.015和0.002)。T等位基因对高血压的OR值为1.300(95%CI:1.166-1.450),Logistic回归分析显示MTHFR基因C677T多态性是高血压的独立变量(P=0.027)。在高血压患者中,T等位基因携带者的舒张末期左室内径(EDD)、室间隔厚度(IVST)、左室后壁厚度(LVPWT)、左室质量(LVM)和左室质量指数(LVMI)大于CC基因型携带者,但无显著性差异(P=0.428,0.118,0.064,0.077,0.054)。结论 MTHFR677T等位基因可能是原发性高血压的危险因素。T等位基因携带者有易于发生高血压左室肥厚的倾向。 Objective Elevated plasma homocysteine (Hcy) level has been associated with the increased risk for cardiovascular disease. The level of plasma Hcy is related to methylene tetrahydrofolate reductase (MTHFR) gene C677T polymorphism. The aim of this study is to evaluate the relationships between MTHFR gene C677T polymorphism and hypertension, cardiac structure and function. Methods Genotype of MTHFR gene C677T polymorphism was detected by polymerase chain reaction -restriction fragment length polymor phism (PCR-RFLP) analysis and decided by electrophoresis and sequencing in 695 patients with essential hypertension and 509 age-matched normal controls. Echocardiography was performed in patients with essential hypertension. Results In hypertension group, the frequencies of TT genotype and T allele were significantly higher than those in control group (26. 5% vs 20. 6%, 48. 7% vs 42. 4% ; P=0. 015, 0. 002). The essential hypertension odds ratio (OR) associated with MTHFR 677T allele was 1. 300 (95%CI: 1. 166 to 1. 450). Logistic regression analysis indicated that MTHFR gene C677T polymorphism was an independent variable of hypertension (P=0. 027). End diastolic dimension (EDD), interventricular septal thickness (IVST), left ventricular posterior wall thickness (LVPWT), left ventricular mass (LVM) and left ventricular mass index (LVMI) were higher in hypertensive patients with T allele than that in those with CC genotype, but all had no statistical significance (P=0. 428, 0. 118, 0. 064, 0. 077, 0. 054). Conclusion The 677T allele in MTHFR gene may be a risk factor for hypertension. Hypertensive patients with MTHFR 677T had a trend of hypertrophy, but the relationship has no statistical significance. The rdationship between MTHFR gene C677T polymorphism and left ventricular hypertrophy need to be further studied.
作者 邢绣荣 华琦 Xing Xiurong, Hua Qi.( Cardiovascular Department, Xuan Wu Hospital of Capital Medical University, Beijing 100053, China)
出处 《解放军医学杂志》 CAS CSCD 北大核心 2007年第7期 741-744,共4页 Medical Journal of Chinese People's Liberation Army
关键词 高血压 亚甲基四氢叶酸还原酶 基因多态性 超声心动描记术 hypertension methylenetetrahydrofolate reductase gene polyrnorphism echocardiography
作者简介 邢绣荣,主治医师,医学博士。主要从事心血管内科的基础及临床研究 通讯作者:华琦,E-mail:huaqi5371@medmail.com.cn
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参考文献14

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