Rassoul F, Richter V, Janke C, Purschwitz K, Klötzer B, Geisel J, Herrmann W
Department of Clinical Chemistry and Pathobiochemistry, University Leipzig/Working Group Health Promotion and Prevention of Atherosclerosis e.V., Germany.
Angiology. 2000 Mar;51(3):189-96. doi: 10.1177/000331970005100302.
Several studies have identified moderate hyperhomocysteinemia (HCy) as an independent risk factor for atherosclerosis. The purpose of this case control study was to determine lipoprotein profile and homocysteine concentration in serum of 85 male patients with peripheral arterial occlusive disease (PAOD) and in 51 normolipidemic age-matched male controls. Cholesterol, triglycerides, and high-density lipoprotein (HDL) cholesterol as well as subfractions HDL2 and HDL3 cholesterol, low-density lipoprotein (LDL) cholesterol, apo B, apo A-I, and lipoprotein particles LpA-I and LpA-I:A-II were measured in serum. Homocysteine, folic acid, and vitamins B6 and B12 were determined with the help of high-pressure liquid chromatography. The 677 C --> T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene was analyzed in PAOD patients. Patients with peripheral arterial occlusive disease showed a significantly higher mean concentration of homocysteine than control subjects (p<0.001). There was a negative correlation between the levels of homocysteine and vitamin B12 as well as folic acid (for vitamin B12: r=-0.40 and for folic acid: r=-0.38). The prevalence of hyperhomocysteinemia (Hcy >16 micromol/L) in the patients was 45% in contrast to 8% in controls. HDL cholesterol, HDL3 cholesterol, Apo A-I, and Lp A-I were significantly reduced in patients and triglycerides were elevated. The elevated plasma homocysteine concentration is frequently seen in homozygous carriers of a point mutation (677 C --> T) in the methylenetetrahydrofolate reductase gene, as the product of this gene is an enzyme, participating in homocysteine remethylation. The homozygous state for the 677 C --> T mutation was found in 13.3% of PAOD patients.
多项研究已将中度高同型半胱氨酸血症（HCy）确定为动脉粥样硬化的独立危险因素。本病例对照研究的目的是测定85例男性外周动脉闭塞性疾病（PAOD）患者和51例年龄匹配的血脂正常男性对照者血清中的脂蛋白谱和同型半胱氨酸浓度。测定血清中的胆固醇、甘油三酯、高密度脂蛋白（HDL）胆固醇以及HDL2和HDL3胆固醇亚组分、低密度脂蛋白（LDL）胆固醇、载脂蛋白B、载脂蛋白A-I以及脂蛋白颗粒LpA-I和LpA-I:A-II。借助高压液相色谱法测定同型半胱氨酸、叶酸以及维生素B6和B12。对PAOD患者分析亚甲基四氢叶酸还原酶（MTHFR）基因的677 C→T突变。外周动脉闭塞性疾病患者的同型半胱氨酸平均浓度显著高于对照者（p<0.001）。同型半胱氨酸水平与维生素B12以及叶酸之间呈负相关（维生素B12：r=-0.40；叶酸：r=-0.38）。患者中高同型半胱氨酸血症（Hcy>16μmol/L）的患病率为45%，而对照者中为8%。患者的HDL胆固醇、HDL3胆固醇、载脂蛋白A-I和Lp A-I显著降低，甘油三酯升高。血浆同型半胱氨酸浓度升高常见于亚甲基四氢叶酸还原酶基因突变（677 C→T）的纯合携带者，因为该基因的产物是一种参与同型半胱氨酸再甲基化的酶。在13.3%的PAOD患者中发现了677 C→T突变的纯合状态。
