脑血栓形成与亚甲基四氢叶酸还原酶基因多态性的关系

Relationship between the gene polymorphism of MTHFR and the cerebral thrombosis

目的 探讨中国汉族人群脑血栓形成与亚甲基四氢叶酸还原酶 (MTHFR)基因多态性及血浆同型半胱氨酸 (Hcy)水平的关系。 方法 利用聚合酶链反应 限制性内切酶长度多态性 (PCR RFLP)方法分析脑血栓形成患者 (75例 )与健康人群 (62名 )的MTHFR基因突变的情况。采用高效液相色谱法测定血浆Hcy水平 ,并加以对照分析。 结果 脑血栓形成组与对照组MTHFR基因型频率CC、CT、TT型分别为 0 41、0 35、0 2 4及 0 58、0 2 3、0 1 9,两组相比差异无显著意义 (P =0 1 37)。患者组与对照组MTHFR的T等位基因频率分别为 0 41和 0 31 ,两组相比差异无显著意义 (P =0 0 67)。脑血栓形成组与对照组血浆Hcy水平分别为 (1 8 3± 7 2 ) μmol/L与 (1 3 6± 5 8)μmol/L ,二者比较差异有显著意义 (P <0 0 0 1 )。两组中MTHFR基因TT型者Hcy水平与CC型比较差异有显著意义 (P <0 0 5) ,Hcy水平与叶酸呈负相关 (患者组 :r =- 0 31 ,P <0 0 1 ;对照组 :r =- 0 2 8,P <0 0 5)。结论 血浆Hcy水平升高是脑血栓形成的危险因素之一 。

Objective To investigate the association of gene polymorphism of methylenetetrahydrofolate reductase (MTHFR), and the level of homocysteine (Hcy) in patients with cerebral thrombosis in Chinese population Methods MTHFR genotype and allele frequency in 75 patients with cerebral thrombosis and 62 control subjects were measured by polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP) Concentration of plasma Hcy was measured by reverse phase high performance liquid chromatography in a subgroup Results In patients and control subjects, the frequencies of T allele were 0 41 and 0 31, respectively The frequencies of CC, CT, TT genotype of cerebral thrombosis patients were 0 41, 0 35, 0 24, respectively Meanwhile those of the controls were 0 58, 0 23, 0 19 Neither the genotype ( P =0 137) nor the allele frequency ( P =0 067) was significantly different between patients and control subjects Furthermore, plasma Hcy level of the patients was (18 3±7 2) μmol/L, which differed significantly from that of the controls, which was (13 6±5 8) μmol/L ( P <0 001) And Hcy levels were obviously higher both in patients and control subjects with the TT genotype than those with the CC genotype ( P <0 05) There was obvious negative correlation between the plasma Hcy and folate levels (patients: r =-0 31, P <0 01; controls: r =-0 28, P <0 05) Conclusions There was no obvious relationship between cerebral thrombosis and MTHFR genotype The higher plasma Hcy level might be a risk factor in the onset of CT, and the mutation of MTHFR gene might be a factor to cause high Hcy levels