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印度东部农村地区中风患者的基因多态性关联研究

Association of Gene Polymorphism with Stroke Patients from Rural Eastern India.

作者信息

Ganaie Hilal Ahmad, Biswas Arindam, Bhattacharya Annada Prasad, Pal Sandip, Ray Jharna, Das Shymal Kumar

机构信息

Department of Neurology, Burdwan Medical College, Burdwan, West Bengal, India.

S.N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, West Bengal, India.

出版信息

Ann Indian Acad Neurol. 2020 Jul-Aug;23(4):504-509. doi: 10.4103/aian.AIAN_45_19. Epub 2019 Jul 10.

Abstract

CONTEXT

Studies from the different ethnic regions of the world have reported variable results on association of APOE gene polymorphism in stroke.

AIM

The aim of this study is to find out the possible association of APOE polymorphism in stroke patients in ethnic Bengali population.

SETTINGS AND DESIGN

A prospective case-control study was undertaken in the Department of Neurology, Burdwan Medical College, Burdwan, West Bengal, India, over a period of 3 years.

METHODS

We collected 10 ml venous blood samples from 148 clinically and radiologically diagnosed acute stroke patients (80 of ischemic stroke and 68 of intracerebral hemorrhage) and consecutive 108 ethnic age- and sex-matched controls, in ethylenediaminetetraacetic acid vials after informed written consent. Genomic DNA was prepared at S.N. Pradhan Centre of Neurosciences, University of Calcutta, Kolkata, India. Exotic single-nucleotide polymorphisms (rs429358, rs 7412) were analyzed by polymerase chain reaction-restriction fragment length polymorphism for genotype of APOE.

RESULTS

The frequencies of different allele among 80 ischemic stroke patients were 5.6% ( = 9) for E2, 75.68% ( = 121) for E3, and 18.7% ( = 30) for E4. The E3 allele is significantly over-represented ( = 0.004) in controls compared to the patients (88% in controls vs 75.6% ischemic stroke patients and 80% hemorrhagic patients). A significantly high frequency of APOE4 allele was observed in ischemic (18.7%) and hemorrhagic patients (11%) compared to controls (8%). The E4 allele plays a major risk for developing ischemic stroke [odds ratio (OR) = 2.744; 95% confidence interval (CI): 1.43-5.10] and E3 plays a protective role for hemorrhagic stroke (OR = 0.53; 95% CI: 0.29-0.96), while E4 allele plays a nonsignificant ( = 0.31) increase in trend in hemorrhage stroke (OR = 1.4).

CONCLUSIONS

There is significant association of APOE gene polymorphism in stroke patients of ethnic Bengali population. The E4 allele increases significant risk for development of ischemic strokes, and it also plays nonsignificant increase in trend in hemorrhagic strokes.

摘要

背景

来自世界不同种族地区的研究报告了载脂蛋白E(APOE)基因多态性与中风关联的不同结果。

目的

本研究旨在找出孟加拉族中风患者中APOE基因多态性的可能关联。

设置与设计

在印度西孟加拉邦布尔杜万市布尔杜万医学院神经科进行了一项为期3年的前瞻性病例对照研究。

方法

在获得知情书面同意后,我们从148例经临床和放射学诊断的急性中风患者(80例缺血性中风和68例脑出血)以及连续的108例年龄和性别匹配的孟加拉族对照者中采集10毫升静脉血样本,置于乙二胺四乙酸瓶中。基因组DNA在印度加尔各答市加尔各答大学S.N.普拉丹神经科学中心制备。通过聚合酶链反应-限制性片段长度多态性分析APOE基因的外显单核苷酸多态性(rs429358、rs7412)的基因型。

结果

80例缺血性中风患者中不同等位基因的频率分别为:E2为5.6%(n = 9),E³为75.68%(n = 121),E4为18.7%(n = 30)。与患者相比,E3等位基因在对照组中的比例显著过高(P = 0.004)(对照组为88%,缺血性中风患者为75.6%,出血性中风患者为80%)。与对照组(8%)相比,缺血性中风患者(18.7%)和出血性中风患者(11%)中APOE4等位基因的频率显著较高。E4等位基因是发生缺血性中风的主要危险因素[比值比(OR)= 2.744;95%置信区间(CI):1.43 - 5.10],E3对出血性中风起保护作用(OR = 0.53;95%CI:0.29 - 0.96),而E4等位基因在出血性中风中的增加趋势不显著(P = 0.31)(OR = 1.4)。

结论

孟加拉族中风患者中APOE基因多态性存在显著关联。E4等位基因显著增加缺血性中风的发病风险,在出血性中风中也有不显著的增加趋势。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d00/7657292/92501f71f5c3/AIAN-23-504-g001.jpg

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