摘要
目的探讨5,10-亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与H型高血压及血浆同型半胱氨酸（Hcy）水平升高的关系。方法 2013年9月至2014年6月按整群随机抽样方法抽取湖南省6个地区的12个自然村或社区≥30岁长住居民4 012例,采用计算机随机数字表法从中随机抽取571例作为研究对象,根据血压及Hcy水平,将571例人群分为普通高血压组（190例）、H型高血压组（94例）和正常血压组（287例）。对所有研究对象采用扩增阻滞突变系统-聚合酶链反应法检测MTHFR C677T基因多态性,并进行基因分型;同时检测Hcy水平。结果 H型高血压组[70.2%（66例）、29.8%（28例）]、普通高血压组[82.1%（156例）、17.9%（34例）]和正常血压组[81.9%（235例）、18.1%（52例）]3组间隐性模型（CC＋CT、TT）基因型频率差异有统计学意义（χ^2=6.797,P=0.033）;而3组间CC、CT、TT基因型频率差异无统计学意义（P〉0.05）。隐性模型中,H型高血压组TT与正常血压组和普通高血压组基因型频率比较,差异有统计学意义（χ^2=5.812,P=0.016;χ^2=5.212,P=0.022）。普通高血压组TT与正常血压组基因型频率比较,差异无统计学意义（P〉0.05）。H型高血压组MTHFR C677T隐型模型CC＋CT、TT基因型Hcy水平分别为（17.1±1.6）、（19.0±2.9）μmol/L,两种基因型间比较,差异有统计学意义（t=-3.115,P=0.004）。MTHFR C677T隐性模型基因型与H型高血压Logistic回归分析显示,调整性别和年龄后,隐性模型TT基因型者具有更高的H型高血压的发病风险（OR=1.946,95%CI：1.172～3.232,P=0.010）。结论该研究人群MTHFR C677T基因TT突变可能是Hcy水平升高和H型高血压发病的重要遗传因素。
Objective To investigate the relationship between methylenetetrahydrofotate reductase（ MTHFR） C677 T polymorphisms and H-type hypertension and increased plasma homocysteine（ Hcy）levels. Methods From September 2013 to June 2014,4 012 permanent residents aged ≤30 year from 12 natural villages or communities in 6 regions of Hunan province were extracted according to the cluster random sampling method. Using computer random number table,571 residents were randomly selected as the research objects. According to the blood pressure and Hcy levels,571 residents were divided into 3groups： a common hypertension group（ n = 190）,an H-type hypertension group（ n = 94）,and a normal blood pressure group（ n = 287）. Amplification refractory mutation system-polymerase chain reaction（ ARMS-PCR） method was used to detect the MTHFR C677 T polymorphisms in all the research objects and the penotyping was performed. Hcy levels were detected at the same time. Results There were significant differences in recessive model（ CC ＋ CT,TT） genotype frequencies among the H-type hypertension group（ n = 66[70. 2% ],n = 28[29. 8% ]）,common hypertension group（ n = 156[82. 1% ],n = 34[17. 9% ]）,and normal blood pressure group（ n = 235[81. 9% ],n = 52[18. 1% ]）（ χ^2= 6. 797,P = 0. 033）,and there were no significant differences in CC,CT,and TT genotype frequencies among the 3 groups（ P〉0. 05）. In the recessive model,there were significant differences in TT genotype frequencies between the H-type hypertension group and the normal blood pressure group or the common hypertension group（ χ^2= 5. 812,P = 0. 016; χ^2= 5. 212,P = 0. 022）. There was no significant difference in TT genotype frequencies between the common hypertension group and the normal blood pressure group（ P〉0. 05）. The CC ＋ CT and TT genotype Hcy levels of the MTHFR C677 T recessive model in the H-type hypertension group were 17. 1 ± 1. 6 and 19. 0 ± 2. 9 μmol / L respectively. There was significant difference between t
出处
《中国脑血管病杂志》
CAS
CSCD
北大核心
2015年第11期581-586,共6页
Chinese Journal of Cerebrovascular Diseases
基金
国家自然科学基金资助项目(81202281)
