亚甲基四氢叶酸还原酶基因多态性与分支动脉粥样硬化疾病早期神经恶化相关性研究

Association between MTHFR gene polymorphism and early neurological deterioration in branch atheromatous disease

目的探讨血浆同型半胱氨酸及亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与分支动脉粥样硬化疾病早期神经恶化(END)的相关性。方法分支动脉粥样硬化疾病患者168例,根据诊断分为END组88例,非END组80例。采用美国国立卫生研究院卒中量表(NIHSS)评分评估患者神经功能。采用多变量logistic回归分析确定END的危险因素。通过PCR荧光定量进行基因分型,分析基因型的分布情况。结果END组糖化血红蛋白、同型半胱氨酸和入院时NIHSS评分明显高于非END组(P<0.05,P<0.01)。多因素logistic回归分析显示,糖化血红蛋白(OR=1.531,95%CI:1.143~1.982,P=0.024)、同型半胱氨酸(OR=2.786,95%CI:1.193~6.943,P=0.036)和入院时NIHSS评分(OR=1.668,95%CI:1.175~2.342,P=0.004)为END的危险因素。MTHFR C677T基因T/T型同型半胱氨酸(18.33±0.74)μmol/L最高,其次C/T型同型半胱氨酸(16.11±0.79)μmol/L,C/C型同型半胱氨酸(13.29±0.53)μmol/L最低(P=0.024)。结论血浆同型半胱氨酸水平是分支动脉粥样硬化疾病患者END的独立危险因素。MTHFR C677T基因T/T型血浆同型半胱氨酸水平最高。

Objective To study the association between MTHFR C677T gene polymorphism and END in BAD.Methods One hundred and sixty-eight BAD patients were divided into END group(n=88)and END-free group(n=80).The neurological function of patients in two groups was assessed according to their NIHSS score.The risk factors for END in BAD patients were analyzed by multivariate logistic regression analysis.The genes were typed by quantitative fluorescence PCR and the distribution of genotypes in two groups was analyzed.Results The serum HbA1C and Hcy levels and NIHSS score on admission were significantly higher in END group than in END-free group(P<0.05,P<0.01).Multivariate logistic regression analysis showed that serum HbA1C and Hcy levels and NIHSS score on admission were the independent risk factors for END(OR=1.531,95%CI:1.143-1.982,P=0.024;OR=2.786,95%CI:1.193-6.943,P=0.036;OR=1.668,95%CI:1.175-2.342,P=0.004).The srum Hcy level was significantly higher in MTHFR C677T T/T genotype than in MTHFR C677T C/T and C/C genotypes(18.33±0.74μmol/L vs 16.11±0.79μmol/L vs 13.29±0.53μmol/L,P=0.024).Conclusion Serum Hcy level is the independent risk factor for END in BAD patients and is higher in MTHFR C677T T/T genotype than in MTHFR MTHFR C677T C/C and C/T genotypes.