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背景:关于MTHFR和CBS基因是否为脑血管病易感基因存在争议。目的:研究人体MTHFR和CBS基因多态性与脑梗死及脑出血的遗传相关性。设计:病例对照研究。地点和对象:中国北方汉族人群中选取54例脑梗死患者(脑梗死组)、27例脑出血患者(脑出血组)及96例健康人(对照组)。干预:采用限制性内切酶片段长度多态性方法(PCR-RFLP)。对人的MTHFR基因C677T多态性位点、CBS基因T27796C进行检测。主要观察指标:MTHFR,CBS基因PCR与限制性酶切结果。3组MTH-FR,CBS的基因型及等位基因频率分布。结果:MTHFR基因的C677T位点与脑梗死及脑出血均有显著相关,脑梗死组(47.2%)、脑出血组(44.4%)与对照组(60.9%)之间T/C等位基因频率存在差异(χ2=5.28,4.69,P<0.05)。TT等位基因型较CC型患脑梗死、脑出血的风险高(OR=2.53;OR=3.0)。CBS基因T27796C多态性位点与脑梗死及脑出血无明显相关(P>0.05)。结论:MTHFR基因C677T突变位点与脑梗死及脑出血有相关性,MTH-FR基因可能是脑卒中的一个易感基因。CBS基因T27796C多态性位点与脑梗死、脑出血无明显相关。
BACKGROUND: Whether or not MTHFR and CBS are cerebrovascular disease susceptible genes is controversial. Objective: To study the genetic relationship between human MTHFR and CBS gene polymorphisms and cerebral infarction and cerebral hemorrhage. Design: Case-control study. Location and Subjects: 54 cerebral infarction patients (cerebral infarction group), 27 cerebral hemorrhage patients (intracerebral hemorrhage group) and 96 healthy volunteers (control group) were selected from Han nationality in northern China. Interventions: Using restriction fragment length polymorphism (PCR-RFLP). The human MTHFR gene C677T polymorphism site, CBS gene T27796C were detected. MAIN OUTCOME MEASURES: PCR and restriction analysis of MTHFR and CBS genes. The genotype and allele frequency distribution of MTH-FR and CBS in 3 groups. Results: The C677T site of MTHFR gene was significantly associated with cerebral infarction and cerebral hemorrhage. The frequencies of T / C allele in cerebral infarction group (47.2%), cerebral hemorrhage group (44.4%) and control group (60.9%) There was a difference (χ2 = 5.28,4.69, P <0.05). The TT allele had a higher risk of cerebral hemorrhage than those with CC (OR = 2.53; OR = 3.0). There was no significant correlation between CBS gene T27796C polymorphism and cerebral infarction and intracerebral hemorrhage (P> 0.05). Conclusion: The C677T mutation of MTHFR gene is associated with cerebral infarction and cerebral hemorrhage. MTH-FR gene may be a susceptible gene in stroke. CBS gene T27796C polymorphism sites and cerebral infarction, cerebral hemorrhage no significant correlation.