【摘要】 目的研究同型半胱氨酸(homocystine,Hcy)代谢基因胱硫醚β合酶(cystathionineβsynthase,CBS)基因T833C突变在急性脑梗死后轻度血管性认知功能障碍(vascular cognitve impairment,VCI)中的价值研究。方法采用扩增阻滞突变体系法检测CBS T833C基因型,对急性脑梗死分别行入院时、14 d、30 d和90 d时蒙特利尔认知评估量表(Montreal Cognitive Assessment,Mo CA)和简易精神状态量表(Mini-Mental State Examination,MMSE)评分。结果 Logistic回归分析显示Hcy可能是轻度VCI的独立危险因素(OR为1.274;95%CI 1.027~1.264,P=0.018);空腹高同型半胱氨酸血症(Hhcy)组14 d、30 d和90 d MMSE和Mo CA评分分别低于Hcy水平正常组(P<0.01或0.05);各基因型入院时MMSE和Mo CA评分无差别(P>0.05),而入院14 d时,C/C型MMSE和Mo CA评分低于T/T型(P<0.05),随访30 d和90 d时,C/C型MMSE和Mo CA评分趋势是低于C/T和T/T型(P<0.01或0.05),C/T型低于T/T型(P<0.01或0.05)。结论 CBS T833C基因突变可能是引起Hhcy,间接促进了脑梗死患者VCI事件的出现,可能是VCI的遗传易感因素。更多还原

【Abstract】 Objective To study the value of the homocystine metabolic gene T833 C polymorphism of cystathionineβsynthase( CBS) in the mild vascular cognitve impairment( VCI) after acute cerebral infarction. Methods CBS T833 C genetyp was analyzed by PCR-ARMS technologies. Acute cerebral infarction were separately on admission,14 days,30 days and 90 days with Montreal Cognitive Assessment scale( Mo CA) and Mini-getting the State Examination( MMSE) score.Results Logistic regression analysis showed that Hcy may be independent risk factors for mild VCI( OR = 1. 274; 95% CI1. 027 ~ 1. 264; P = 0. 018). The comparison of 14 days,30 days,90 days MMSE and Mo CA scores with fasting plasma hyperhomocysteinemia patients were respectively lower than that of normal Hcy levelgroup( P < 0. 01 or P < 0. 05). Comparing different genotype scores,there were not difference on admission( P > 0. 05),C/C genotype MMSE and Mo CA scores were respectively below T/T genotype on hospital 14 days( P < 0. 05),follow-up 30 and 90 days,C/C genotype scores trend of MMSE and Mo CA were below C/T and T/T genotypes( P < 0. 01 or P < 0. 05),C/T genotype score was lower than T/T genotype( P < 0. 01 or P < 0. 15). Conclusions CBS T833 C gene mutations can lead to hyperhomocysteinemia,indirectly promote the emergence of VCI events with cerebral infarction patients,may be a genetic susceptibility factor of VCI.更多还原