论文部分内容阅读
背景:原发性高血压是脑出血最主要的危险因素,两者之间的密切关系提示可能拥有共同的遗传易感基因。与血压水平或高血压相关的基因可能通过血压或其他途径在脑出血的病理生理过程中发挥重要作用。目的:探讨α-adducin基因G460W多态性与脑出血的相关性。设计:病例对照研究。地点和对象:454例初发脑出血患者,脑出血均由CT和MRI诊断,按年龄、性别匹配454例对照。脑出血病例与对照组均进行基因分型,并通过心脑血管病标准问卷调查、血生化指标测定收集脑出血传统危险因素的信息。主要观察指标:α-adducin基因G460W多态性由PCR判定。结果:脑出血病例组α-adducin基因G460W频率高于对照组(82.2%比76.0%,P=0.02)。多元Logistic回归调整了高血压后,α-adducin基因G460W等位基因携带者与非G460W携带者相比OR为1.41(95%CI,1.04～1.91);调整高血压、过量饮酒和低血清胆固醇等多项脑出血传统危险后,α-adducin基因G460W多态性和脑出血的关联关系依然存在(OR,1.38;95%CI,1.01～1.88)。结论:α-adducin基因G460W多态与脑出血存在关联关系,G460W等位基因与脑出血患病危险的增高有关。这种关联关系独立于高血压和脑出血传统的危险因素。
BACKGROUND: Essential hypertension is the most important risk factor for cerebral hemorrhage. The close relationship between them suggests that they may share common genetic susceptibility genes. Genes associated with blood pressure or hypertension may play an important role in the pathophysiology of cerebral hemorrhage through blood pressure or other pathways. Objective: To investigate the relationship between α-adducin gene G460W polymorphism and cerebral hemorrhage. Design: Case-control study. Location and Subjects: 454 patients with newly diagnosed intracerebral hemorrhage were diagnosed as cerebral hemorrhage by CT and MRI, and 454 controls were matched by age and sex. The patients with cerebral hemorrhage and the control group were genotyped, and the information of traditional risk factors of cerebral hemorrhage was collected through the standard questionnaire of cardio-cerebrovascular disease and blood biochemical indexes. MAIN OUTCOME MEASURES: The α-adducin gene G460W polymorphism was determined by PCR. Results: The frequency of α-adducin gene G460W in ICH patients was higher than that in the control group (82.2% vs 76.0%, P = 0.02). After multivariate Logistic regression adjusted for hypertension, OR of 1.45 (95% CI, 1.04-1.91) in subjects with G460W allele of α-adducin gene compared with non-G460W carriers; adjusted for hypertension, excessive alcohol consumption and low serum cholesterol The association between the G460W polymorphism of α-adducin gene and ICH was still present after multiple traumatic brain hemorrhage (OR, 1.38; 95% CI, 1.01-1.88). Conclusion: There is a relationship between G460W polymorphism of α-adducin gene and cerebral hemorrhage. G460W allele is associated with the increased risk of cerebral hemorrhage. This association is independent of the traditional risk factors for hypertension and ICH.