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评估脑梗死遗传风险的分子方法:血管紧张素1转换酶编码基因的缺失多态性

Molecular approach to assessing the genetic risk of cerebral infarction: deletion polymorphism in the gene encoding angiotensin 1-converting enzyme.

作者信息

Sharma P, Carter N D, Barley J, Brown M M

机构信息

Division of Clinical Neuroscience, St. George's Hospital Medical School, University of London, UK.

出版信息

J Hum Hypertens. 1994 Aug;8(8):645-8.

PMID:7990103
Abstract

Numerous factors have been reported to influence the pathogenesis of stroke. The risks arising from variations in genes between individuals have not been explored. The angiotensin 1-converting enzyme gene is a candidate gene for atherosclerotic related disease. In this work we studied the frequency of the deletion allele D and the polymorphism DD within the gene encoding angiotensin 1-converting enzyme in stroke patients compared with controls to determine if this deletion polymorphism was a potential independent risk factor for stroke. We report a study of 100 patients with cerebral infarction along with 73 normal age and sex matched controls. Personal medical histories associated with high risk factors for stroke were documented. Cholesterol and triglyceride levels for each individual were also measured. Using polymerase chain reaction techniques patients were divided into the three angiotensin 1-converting enzyme genotypes (Deletion D and Insertion I) II, ID and DD. The D/I frequency in patients with stroke (0.57/0.43) was compared with controls (0.48/0.52). This was not statistically different (P > 0.05, chi-squared test). Although strokes did occur at a younger age in those with the DD genotype compared with those with the insertion allele, the results did not approach acceptable levels of significance (II/ID) (P > 0.05, Mann-Whitney U-test). There were no differences between the three genotypes and other well accepted risk factors for stroke.(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

据报道,有许多因素会影响中风的发病机制。个体之间基因变异产生的风险尚未得到探究。血管紧张素1转换酶基因是动脉粥样硬化相关疾病的候选基因。在这项研究中,我们研究了中风患者与对照组相比,血管紧张素1转换酶编码基因中缺失等位基因D和多态性DD的频率,以确定这种缺失多态性是否是中风的潜在独立危险因素。我们报告了一项对100例脑梗死患者以及73名年龄和性别匹配的正常对照者的研究。记录了与中风高危因素相关的个人病史。还测量了每个人的胆固醇和甘油三酯水平。使用聚合酶链反应技术,将患者分为血管紧张素1转换酶的三种基因型(缺失D和插入I)II、ID和DD。将中风患者的D/I频率(0.57/0.43)与对照组(0.48/0.52)进行比较。这在统计学上没有差异(P>0.05,卡方检验)。尽管与携带插入等位基因的患者相比,携带DD基因型的患者中风发病年龄较轻,但结果未达到可接受的显著水平(II/ID)(P>0.05,曼-惠特尼U检验)。三种基因型与其他公认的中风危险因素之间没有差异。(摘要截短至250字)

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