同型半胱氨酸和胱硫醚-β合成酶基因多态性与颅内动脉瘤的关系

The relationship of polymorphism of cystathionine β-synthase gene(CBS844ins 68) and plasma homocysteine level with intracranial aneurysm

目的探讨同型半胱氨酸和胱硫醚-β合成酶基因(CBS)844ins 68基因多态性与颅内动脉瘤的关系。方法运用多聚酶链反应技术和荧光偏振法(FPIA)检测76例颅内动脉瘤及143例正常人CBS 844ins 68基因多态性和血浆总Hcy水平。结果①AD组CBS844ins 68 D/D、D/I、I/I基因型频率(%)分别为78.95、19.74、1.31,对照组分别为对照组分别为78.32、18.88、2.80,CBS844ins 68各种基因型频率在患者组与正常对照组之间的差异无统计学意义(P>0.05)。②颅内动脉瘤病例组与对照组血浆Hcy分别为(16.14±6.72)μmol/L和(10.90±2.44)μmol/L,两者差异有统计学意义(P<0.05),颅内动脉瘤患者血浆总Hcy水平显著高于正常组。结论胱硫醚-β合成酶多态性与颅内动脉瘤无明显相关,高同型半胱氨酸血症与颅内动脉瘤病发生有一定关系。

Objective To explore relationship of polymorphism of cystathionine B-synthase gene（CBS 844ins 68） and plasma homocysteine level with intracranial aneurysm.Methods The genotypes of cystathionine β-synthase were determined by PCR-based assay and their plasma homocysteine levels were determined using FPIA method in 76 patients with intracranial aneurysm and 143 healthy controls.Results ① There were no significant differences in the frequencies of cystathionine β-synthase mutations between the patients and control groups（P 0.05）.② Mean total plasma homocysteine concentrations were significantly higher in intracranial aneurysm patients than normal group（P 0.05）.Conclusion The cystathionine β-synthase may not be independent risk factor for intracranial aneurysm but hyperhomocysteinemia may be independent risk factor for intracranial aneurysm.