亚甲基四氢叶酸还原酶基因多态性与冠心病发病的关系  

Relationship between methylenetetrahydrofolate reductase gene polymorphism and coronary heart disease

作　　者：李秀昌[1] 李素梅[1] 胡燕燕[2] 黄海南[3] 刘建民[2] 

机构地区：[1]泰山医学院附属医院心内科,山东省泰安市271000 [2]山东大学齐鲁医院心内科,山东省济南市250012 [3]山东省医学科学院分子生物学实验室,山东省济南市250012

出　　处：《中国临床康复》2005年第39期48-49,共2页Chinese Journal of Clinical Rehabilitation

摘　　要：目的:探讨同型半胱氨酸代谢的关键酶亚甲基四氢叶酸还原酶基因突变与冠心病发病的关系。方法:①选择2001-07/2003-12泰山医学院附属医院心内科住院患者138例,男82例,女56例。设其中无冠状动脉病变患者33例为对照组。设冠心病患者105例为冠心病组。均对实验目的均知情同意。②采用多聚酶链式反应-限制性内切酶片段长度多态性技术检测亚甲基四氢叶酸还原酶677C→T基因型。③计量资料差异比较采用t检验;对照组和冠心病组间不同基因型所占比例比较采用2×3行列表进行χ2检验;两组间总突变率采用四格表χ2检验;基因突变与冠心病发病关系用相对危险度表示。结果:无冠状动脉病变患者33例和冠心病患者105例均进入结果分析。①对照组患者纯合子突变型(TT型)占18.2%(6/33),杂合子突变型(CT型)占36.4%(12/33),总突变率54.6%;冠心病组患者纯合子突变型(TT)占25.7%(27/105),杂合子突变型(CT)占57.1%(60/105),总突变率82.8%。两组3种基因型所占比例差异明显(χ2=7.19,P<0.05)。②冠心病组T等位基因频率明显高于对照组[36.4%(24/66),54.3%(114/210),χ2=6.45,P<0.05],T等位基因对冠心病的比值比(OR值)为2.08(95%CI:1.18～3.68,P<0.05)。结论:亚甲基四氢叶酸还原酶基因突变表型(C667T)是冠心病发病的独立危险因素。AIM： To explore the relationship between gene mutation of methylenetetrahydrofolate reductase （MTHFR）, which is the key enzyme of homocysteine metabolism, and coronary heart disease. METHODS： ① Between July 2001 and December 2003, totally 138 inpatients （82 males and 56 females） in the Department of Cardiology, Affiliated Hospital of Taishan Medical College were involved in the study, 33 patients without coronary artery disease were taken as the control group, and 105 patients with coronary heart disease were taken as coronary heart disease group. They all knew the purpose of the study and agreed to participated in.②The genotype of methylenetetrahydrofolate reductase 677C→T was detected with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. ③ The differences of the measurement data were compared with the t test. The percentages of different genotypes between the control group and coronary heart disease group were compared with the x^2test by using the 2×3 list. The total mutation rate between the two groups was compared with the fourfold table x^2 test. The association between gene mutation and the attack of coronary heart disease was expressed with relative risk. RESULTS： All the 33 patients without coronary artery disease and 105 patients with coronary heart disease were involved in the analysis of resuits. ① In the control group, the homogenetic type （TT type） was 18.2% （6/33）, heterogenetic type （CT type） was 36.4% （12/33）, and the total mutation rate was 54.6%; In the coronary heart disease, the homogenetic type （TT type） was 25.7% （27/105）, heterogenetic type （CT type） was 57.1% （60/105）, and the total mutation rate was 82.8%. The percentages of the 3 genotypes between the two groups were obviously different （x^2 =7.19,P 〈 0.05）. ② The frequency of T allele was obviously higher in the coronary heart disease group than in the control group [36.4% （24/66）, 54.3% （114/210）, x^2=6.45, P 〈 0.05], the odds

关 键 词：动脉硬化 同型半胱氨酸 四氢叶酸还原酶/遗传学 危险因素 多态性 限制性片段长度 

分 类 号：R541.4[医药卫生—心血管疾病]