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Relationship of plasma homocysteine and folic acid levels and 5,10-methylenetetrahydrofolate reductase gene mutation with venous thromboembolism
Author(s): 
Pages: 591-594
Year: Issue:  8
Journal: CHINESE JOURNAL OF INTERNAL MEDICINE

Keyword:  高同种半胱氨酸血症叶酸MTHFR C667T基因突变静脉血栓形成;
Abstract: 目的探讨血浆叶酸、同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因突变与静脉血栓栓塞症(VTE)的关系及MTHFR基因突变对血浆叶酸、Hcy水平的影响.方法采用病例对照研究,对58例既往确诊为VTE(VTE组)的患者及与其性别、年龄相匹配的58例健康对照者(健康对照组)行流行病学调查,高效液相色谱分析法测血浆中Hcy、蛋氨酸和半胱氨酸水平,放射免疫法测血浆中叶酸水平,PCR-限制性片段长度多态性(RFLP)法测MTHFR C677T基因型.结果吸烟、高血压、糖尿病等危险因素均与VTE无关.血浆Hcy和叶酸浓度在2组间有明显差异(P<0.05).多变量logistic回归分析显示,Hcy和叶酸浓度是影响VTE的独立因素(OR=1.5,95%CI为1.216~2.213;OR=0.396,95%CI为0.149~0.709).MTHFR C667T基因突变在2组间差异无显著性(P>0.05).血浆叶酸浓度与血浆Hcy浓度有明显关联(偏相关系数为-2.061,P<0.05).MTHFR C667T基因突变虽然与血浆Hcy浓度无关,但与血浆叶酸浓度相关(偏相关系数为0.5856,P<0.01).结论高同型半胱氨酸血症和叶酸缺乏是VTE独立的危险因素,叶酸缺乏是造成高同型半胱氨酸血症的原因之一,MTHFR C667T基因突变可能是造成叶酸缺乏的遗传因素之一.
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