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载脂蛋白E4基因多态性与中国汉族人群脑梗死的相关性

Association of apolipoprotein E 4 polymorphism with cerebral infarction in Chinese Han population.

作者信息

Jin Zhu-qing, Fan Yong-sheng, Ding Jing, Chen Mei, Fan Wei, Zhang Guang-ji, Zhang Bin-hui, Yu Suo-jing, Zhang Yong-sheng, Ji Wei-feng, Zhang Jian-gang

机构信息

Genomic Research Centre, Zhejiang College of Traditional Chinese Medicine, Hangzhou 310053, China.

出版信息

Acta Pharmacol Sin. 2004 Mar;25(3):352-6.

Abstract

AIM

To study the association between APOE polymorphisms and cerebral infarction through a case-control study among the Chinese Han population.

METHODS

First-ever cerebral infarction patients (n=226) whose ages ranged from 40 to 60 years old were recruited from Department of Neurology, Zhongshan Hospital, Shanghai, and Zhejiang Chinese Traditional Medicine Hospital, Zhejiang, China. Unrelated healthy controls (n=201) were selected from the general population in the same area with similar age and sex distribution. APOE was amplified by one-stage PCR using the forward primer: 5'-GGC ACG GCT GTC CAA GGA GCT-3' and reverse primer: 5'-GAT GGC GCT GAG GCC GCG CT-3'. The PCR product was digested directly with 5 U of CfoI and separated by a 20 % polyacrylamide (acrylamide: bis-acrylamide=29:1) nondenaturing gel.

RESULTS

Both cerebral infarction patient and control groups were in Hardy-Weinberg equilibrium. The allele frequency of APOE2, APOE3, and APOE4 was 4.6 %, 81.9 %, and 13.5 % respectively in the patients with cerebral infarction; 5.7 %, 87.3 %, and 7.0 % respectively in the healthy control group. Compared with APOE3/3 subjects, APOE4/4 carriers had a 2.1-fold risk of cerebral infarction (odds ratio 2.1, 95 % confidence limits 1.3 to 3.4). The allele frequency of APOE4 in the cerebral infarction patient group was significantly higher than that in the control group (13.5 % vs 7.0 %; P=0.002).

CONCLUSION

APOE 4 is a risk factor for cerebral infarction among the Chinese Han population.

摘要

目的

通过在中国汉族人群中进行病例对照研究,探讨载脂蛋白E(APOE)基因多态性与脑梗死的关系。

方法

从上海中山医院神经内科、浙江中医药大学附属第一医院招募年龄在40至60岁之间的首发脑梗死患者(n = 226)。从同一地区年龄和性别分布相似的普通人群中选取无关健康对照者(n = 201)。使用正向引物5'-GGC ACG GCT GTC CAA GGA GCT-3'和反向引物5'-GAT GGC GCT GAG GCC GCG CT-3'通过一步法PCR扩增APOE。PCR产物直接用5 U的CfoI消化,并用20%聚丙烯酰胺(丙烯酰胺:双丙烯酰胺=29:1)非变性凝胶分离。

结果

脑梗死患者组和对照组均处于Hardy-Weinberg平衡。脑梗死患者中APOE2、APOE3和APOE4的等位基因频率分别为4.6%、81.9%和13.5%;健康对照组分别为5.7%、87.3%和7.0%。与APOE3/3受试者相比,APOE4/4携带者发生脑梗死的风险高2.1倍(比值比2.1,95%置信区间1.3至3.4)。脑梗死患者组中APOE4的等位基因频率显著高于对照组(13.5%对7.0%;P = 0.002)。

结论

APOE 4是中国汉族人群脑梗死的一个危险因素。

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