Chen J, Zhang I, Cheng L, Li Y
Institute of Cardiology, Xiehe Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022.
J Tongji Med Univ. 2001;21(1):17-20. doi: 10.1007/BF02888026.
The relationship between hyperhomocysteinemia and coronary artery disease (CAD) was investigated and the influence of environmental factors (Folate, VitB12) and genetic factors [N5, N10-methylenetetrahydrofolate reductase gene (MTHFR) or MTHFR gene mutation] on plasma homocysteine (Hcy) levels and the risk of CAD observed. Fifty-one CAD patients and 30 CAD-free subjects were recruited in the study. The polymorphisms of MTHFR gene were analyzed by PCR-RFLP and plasma total Hcy levels were measured by high performance liquid chromatography with fluorescence detection. Plasma folate and vitamin B12 concentrations were measured by an automated chemiluminescence method. It was found that mean total plasma Hcy concentrations were significantly higher in CAD patients than in CAD-free subjects (P < 0.01). The differences were also apparent among the three genotypes of MTHFR gene in CAD group (P < 0.05). There was no significant difference in the genotype distributions and allele frequencies between the two groups. A strong inverse correlation was found between folate or vitamin B12 and plasma Hcy levels according to MTHFR genotype (P < 0.01). It was concluded that hyperhomocysteinemia is a new independent risk factor for CAD. However, MTHFR gene mutation alone does not relate significantly to the morbidity of CAD since hyperhomocysteinemia and its influence on the risk of CAD are decided by both environmental and genetic factors. Supplementary treatment with vitamins B can effectively lower the plasma levels of Hcy, thus maybe reducing the risk of CAD.
研究了高同型半胱氨酸血症与冠状动脉疾病（CAD）之间的关系，并观察了环境因素（叶酸、维生素B12）和遗传因素[N5，N10-亚甲基四氢叶酸还原酶基因（MTHFR）或MTHFR基因突变]对血浆同型半胱氨酸（Hcy）水平及CAD风险的影响。该研究招募了51例CAD患者和30例无CAD受试者。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析MTHFR基因的多态性，并用荧光检测高效液相色谱法测定血浆总Hcy水平。采用自动化学发光法测定血浆叶酸和维生素B12浓度。结果发现，CAD患者的血浆总Hcy平均浓度显著高于无CAD受试者（P<0.01）。CAD组MTHFR基因的三种基因型之间也存在明显差异（P<0.05）。两组间基因型分布和等位基因频率无显著差异。根据MTHFR基因型，发现叶酸或维生素B12与血浆Hcy水平呈强负相关（P<0.01）。得出结论，高同型半胱氨酸血症是CAD的一个新的独立危险因素。然而，单独的MTHFR基因突变与CAD的发病率无显著相关性，因为高同型半胱氨酸血症及其对CAD风险的影响由环境和遗传因素共同决定。补充维生素B治疗可有效降低血浆Hcy水平，从而可能降低CAD风险。
