昆明地区汉族H型高血压MTHFR基因C677T多态性及其相关危险因素的分析  

Polymorphism and risk factors of MTHFR C677T for H type hypertension in Kunming Han population

作　　者：钱净[1] 施茜[1] 翟秀伟[1] 赵晓丽[1] 邵剑春[1] 胡大春[1] QIAN Jing;SHI Qian;ZHAI Xiuwei;ZHAO Xiaoli;SHAO Jianchun;HU Dachun(Department of Clinical Laboratory,the First Hospital of Kunming,Calmette Hospital of Kunming Medical University,Kunming 650011,Yunnan,China)

机构地区：[1]昆明市第一人民医院检验科昆明医科大学附属甘美医院,云南昆明650011

出　　处：《检验医学》2018年第6期476-480,共5页Laboratory Medicine

摘　　要：目的探讨高血压相关因素、血清同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与昆明地区汉族人群H型高血压的相关性,为该地区H型高血压的防治和个体化治疗提供基础信息。方法用等位基因特异性-聚合酶链反应(AS-PCR)对H型高血压组(111例)、非H型高血压组(112例)、正常对照组(119名)进行MTHFR基因C677T多态性检测,同时测定血清Hcy水平,对H型高血压发生相关因素进行Logistic回归分析。结果正常对照组MTHFR基因C677T CC、CT、TT基因型频率分别为49.6%、36.1%、14.3%;H型高血压组患者CC、CT、TT基因型频率分别为24.3%、50.5%和25.2%。非H型高血压组患者CC、CT、TT基因型频率分别为45.5%、35.7%、18.8%。H型高血压组患者CT和TT突变基因型分布频率高于非H型高血压组和正常对照组(P<0.05)。H型高血压发生相关因素的Logistic回归分析结果显示,年龄、MTHFR基因C677T位点突变、高血压家族史、饮酒是昆明地区汉族H型高血压发病的危险因素,其中MTHFR基因C677T位点突变导致H型高血压病发生的危险性是对照人群的2.701倍(P<0.05),高于其他因素。结论昆明地区汉族健康人群和高血压患者中,MTHFR基因C677T位点等位基因和基因型多态性分布频率具有地区特征性。在昆明地区汉族人群中,MTHFR基因C677T位点突变在H型高血压的发生机制中可能具有重要作用。Objective To investigate the correlations of hypertension,serum homocysteine（Hcy） and methylenetetrahydrofolate reductase（MTHFR） C677 T polymorphism with H type hypertension in Kunming Han population,and to provide basic information on the prevention and individualized treatment of H type hypertension. Methods A total of 111 patients with H type hypertension were enrolled,and 112 hypertension patients without H type hypertension were enrolled as non-H type hypertension group. Totally,119 healthy subjects were enrolled as healthy control group. Allele specific-polymerase chain reaction（AS-PCR） was used to determine MTHFR C677T polymorphism. Serum Hcy level was determined as well. The risk factors for H type hypertension were analyzed by Logistic regression analysis. Results MTHFR C677T CC,CT and TT genotype frequencies were 49.6%,36.1% and 14.3% in healthy control group. CC,CT and TT genotype frequencies were 24.3%,50.5% and 25.2% in H type hypertension group,and those were 45.5%,35.7% and 18.8% in non-H type hypertension group. The distribution frequencies of CT and TT genotypes in H type hypertension group were higher than those in non-H type hypertension group and healthy control group（P〈0.05）. Logistic regression analysis showed that age,MTHFRC677 T mutation,the family history of hypertension and drinking were risk factors for H type hypertension,the risk of H type hypertension caused by MTHFR C677 T mutation was 2.701 times than those of control groups,and the risk of MTHFR C677T mutation was higher than those of other factors. Conclusions MTHFR C677T allele and polymorphism distribution frequency have regional characteristics among healthy subjects and hypertension patients in Kunming Han population. MTHFR C677T mutation may play an important role in the mechanism of H type hypertension for Kunming Han population.

关 键 词：亚甲基四氢叶酸还原酶基因 多态性 同型半胱氨酸 H型高血压 

分 类 号：R446.1[医药卫生—诊断学]