【摘要】 目的研究冠心病患者亚甲基四氢叶酸还原酶(MTHFR)677位(C-T)多态性及其与血浆同型半胱氨酸(Hcy)水平、冠心病之间的关系。方法聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析冠心病组(冠脉造影显示至少有一支血管狭窄≥50%)122例与对照组(冠脉造影未发现任何可辨认斑块或狭窄)56例MTHFR677位(C-T)多态性;荧光衍生后高相液相色谱法检测血浆总Hcy水平。SPSS 11.5统计软件分析。结果(1)MTHFR 677位(C-T)有3种基因型(TT,TC,CC),两组基因型分布和等位基因频率分布差异有统计学意义(P<0.05)。(2)冠心病组Hcy水平[μmol/L,(12.99±4.76)]高于对照组(10.95±4.75)(P<0.05)。冠心病、基因型对Hcy水平都有影响(P<0.001)。(3)TT型Hcy水平(15.45±4.41)高于CC型及TC型[分别为(10.49±3.73),(11.55±4.88),P<0.001]。TC基因型与CC基因型Hcy差别无统计学意义(P>0.05)。结论MTHFR 677位C-T多态性与冠心病可能有关;Hcy与冠心病和MTHFR 677位C-T多态性可能有关。更多还原

【Abstract】 Objective To study a mutation at nucleotide 677 in methylenetetrahydrofolate reductase(MTHFR),the relationship among MTHFR,plasma homocysteine(Hcy) levels and coronary heart disease(CHD).Methods All the subjects were underwent coronary angiography.Subjects(n=122) with≥50% stenosis in at least one coronary vessels were defined as CHD group.Subjects(n=56) without any stenosis in all coronary vessels were defined as control.MTHFR genotyping was performed using PCR and restriction fragment length polymorphism analysis(RFLP).Total plasma Hcy levels were measured by high performance liquid chromatography(HPLC) with fluorescence detection.Results(1) There were three kinds of genetypes of MTHFR: TT TC CC.The frequencies of the three genetypes and the frequency of T allele were significantly different between CHD group and control(P<0.05).(2)Mean total plasma homocysteine concentration was significantly higher in CHD group[(12.99±4.76)μmol/L] than that in controls[(10.95±4.75)μmol/L,P<0.05].The level of Hcy was influenced by the stenosis and the genetype(P<0.001).(3)The level of Hcy with TT were significantly higher than that in individuals with CC(P<0.001) and TC(P<0.001).However,there was no significantly different of Hcy levels between individuals with TC and individuals with CC(P>0.05).Conclusion CHD has possible relationship with and the mutation in the nucleotide 677 C-T in MTHFR.The level of Hcy correlated with stenosis and the TT mutation in MTHFR.更多还原