同型半胱氨酸及其代谢关键酶MTHFR C677T基因多态性与颅内动脉瘤的关系

目的 探讨同型半胱氨酸（Hcy）及其代谢关键酶N5,10-亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与颅内动脉瘤的关系.方法 采用荧光偏振免疫法检测76例颅内动脉瘤患者和77例健康成人的血浆Hcy水平,并利用聚合酶链式反应技术检测其MTHFR C677T基因多态性.结果 颅内动脉瘤组血浆Hcy水平（16.14±6.72）μ mol/L高于对照组（11.20±3.20）μmol/L,两组间的差异有显著性（P〈0.05）.两组MTHFR C677T等位基因频率差异无显著性（P〉0.05）;颅内动脉瘤组MTHFR C677T CT基因型频率明显高于正常对照组（P〈0.01）,患颅内动脉瘤的风险是对照组的2.57倍.CC、CT基因型颅内动脉瘤组患者血浆Hcy水平明显高于对照组（P〈0.01）;颅内动脉瘤组患者CT基因型的血浆Hcy浓度较其它基因型高（P〈0.05）.结论 高Hcy血症与颅内动脉瘤病发生有一定关系,MTHFR CT基因型与颅内动脉瘤明显相关.

Relationship between polymorphism of methylenetetrahydrofolate reductase gene and plasma homocysteine level with Intracranial aneurysm

0bjective To explore relationship between plasma homocysteine(Hcy) level and polymorphism of methylenetetrahydrofolate reductase gene(MTHFR) with intracranial aneurysm.Methods The genotyes of MTHFR were determined by PCR-based assay and their plasma Hcy levels were determined in 76 patients with intracranial aneurysm and 77 healthy controls. Results There were significant differences in the CT genotype frequenceies of MTHFR mutations between the patients and central groups(P＜0.01). Mean total plasma Hcy concentrations were significantly higher in intracranial aneurysm patients than those in the normal subjects. Conclusion Hyperhomocysteinemia may be independent risk factors for intracranial aneurysm and MTHFR CT genotype may be independent risk factors for intracranial aneurysm.