血浆同型半胱氨酸及MTHFR基因多态性与颅内动脉粥样硬化的相关性研究

The relationship between plasma homocysteinemia and methylenetetrahydrofolate reductase C677T polymorphism and the intracranial cerebral arteries atherosclerotic

目的评价血浆半胱氨酸(Hcy)及亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与非心源性脑梗死患者颅内动脉粥样硬化性大血管病变(LVD)的关系。方法共纳入非心源性脑梗死患者552例,测定血浆同型半胱氨酸浓度、MTHFR C677T基因型、脑核磁共振及核磁共振脑血管成像造影,以评价颅内动脉狭窄-闭塞程度和数目积分(LVD积分)。结果纳入552例脑梗死患者中,MTHFR C677T基因型中CC基因型148例(26.8%),CT基因型293例(53.1%),TT基因型111例(20.1%),基因型分布符合Hardy-Weinberg遗传平衡(χ2=2.371,P>0.250);合并颅内动脉狭窄342例,无颅内动脉狭窄210例,颅内动脉狭窄组血浆Hcy浓度显著高于无颅内动脉狭窄组(t=10.502,P=0.032),组间MTHFR C677T基因型分布有显著性差异(χ2=7.066,P=0.039),多元回归分析显示,高Hcy血症为急性脑梗死患者存在颅内动脉狭窄的独立危险因素(OR 1.650,95%CI 1.123~3.021,P=0.034),MTHFR C677T的TT基因型并非为颅内动脉狭窄的独立危险因素(OR 1.015,95%CI 1.010~2.532,P=0.079);MTHFR C677T不同基因型组间血浆Hcy浓度有显著性差异(F=7.283,P<0.001),LVD积分无显著性差异(F=2.993,P=0.067),血浆Hcy浓度与颅内血管LVD积分呈正相关关系(r=0.365,P=0.009),高Hcy血症与颅内动脉LVD积分相关(OR 1.531,95%CI 1.172~1.463,P=0.040)。结论高同型半胱氨酸血症与颅内动脉LVD具有相关性,MTHFR C677T基因多态性与高同型半胱氨酸血症有相关性,但与颅内动脉动脉粥样硬化无相关性。

Objective We evaluted the relationship between plasma homocysteinemia and methylenetetrahydrofolate reductase C677T polymorphism and the intracranial cerebral arteries atherosclerotic in cerebral infarction patients.Methods A total of 552 cerebral infarction patients whose plasma concentrations of total homocysteinemia were measured and whose C677T polymorphism status was determined were included in this study.MRI of the brain and magnetic resonance angiography(MRA)of the intracranial cerebral arteries had been performed.intracranial large-vessel Disease(LVD)were assessed by the number of atherosclerotic steno-occlusive arteries(the LVD score),respectively.Results A total of 552 cerebral infarction patients were enrolled,and 148 of them(26.8%)were the CC genotype of MTHFR C677T polymorphism,293 of them(53.1%)were The CT genotype,111 of them(20.1%)were the TT genotype,the genotype distribution in these individuals was in Hardy-Weinberg Equilibrium according to Pearson’sχ2 method(χ2=2.371,P>0.250).Of these patients 342 with intracranial large-vessel disease and 210 with no.The total plasma homocysteinemia concentrations with intracranial large-vessel disease group was significantly higher than that with no intracranial large-vessel disease group(t=10.502,P=0.032),there was significant difference between MTHFR C677T genotype of two groups(χ2=7.066,P=0.039).Multiple Logistic regression analysis showed that hyperhomocysteinemia was the independent risk factors for intracranial large-vessel disease with infarction patients(OR=1.650,95%CI 1.123-3.021,P=0.034).MTHFR C677T TT genotype was not independent risk factors(OR=1.015,95%CI 1.010-2.532,P=0.079).The total plasma homocysteinemia concentrations was significant difference between the 3 genotypes groups of MTHFR C677T genotypes(F=7.283,P<0.001),but the LVD score was no significant difference between the 3 genotypes groups(F=2.993,P=0.067).We also observed a positive correlation between the total plasma homocysteinemia concentrations and the LVD scores of the intracranial arteries(r=0.365,P=0.009).Multiple Logistic regression analysis showed that homocysteinemia was associated with LVD scores of intracranial arteries(OR=1.531,95%CI 1.172-1.463,P=0.040).Conclusion Hyperhomocysteinemia was associated with intracranial cerebral arteries atherosclerotic.The MTHFR C677T polymorphism was associated with hyperhomocysteinemia,but not related to intracranial cerebral arteries atherosclerotic.