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 APOE allele among 80 ischemic stroke patients were 5.6% (n = 9) for E2, 75.68% (n = 121) for E3, and 18.7% (n = 30) for E4. The E3 allele is significantly over-represented (P = 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 (P = 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.


中文翻译：

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APOE 基因多态性与印度东部农村中风患者的关联


背景：来自世界不同种族地区的研究报告了 APOE 基因多态性与中风关联的不同结果。目的：本研究的目的是找出 APOE 多态性与孟加拉族人群中风患者的可能关联。背景和设计：一项前瞻性病例对照研究在印度西孟加拉邦伯德万市伯德万医学院神经内科进行，历时 3 年。方法：我们在知情书面同意后，从 148 名临床和放射学诊断的急性卒中患者（80 名缺血性卒中和 68 名脑出血）和连续 108 名种族年龄和性别匹配的对照中收集了 10 毫升静脉血样本，并装在乙二胺四乙酸小瓶中。基因组 DNA 在印度加尔各答加尔各答大学 SN Pradhan 神经科学中心制备。通过聚合酶链式反应-限制性片段长度多态性分析APOE基因型的外来单核苷酸多态性(rs429358、rs 7412)。结果： 80例缺血性脑卒中患者中不同APOE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显着过高 ( P = 0.004)（对照组为 88%，缺血性中风患者为 75.6%，出血性患者为 80%）。与对照组 (8%) 相比，缺血性患者 (18.7%) 和出血性患者 (11%) 的 APOE4 等位基因频率显着升高。E4 等位基因是发生缺血性中风的主要风险 [比值比 (OR) = 2.744；95% 置信区间 (CI)：1.43–5.10] 且 E3 对出血性中风具有保护作用（OR = 0.53；95% CI：0.29–0.96），而 E4 等位基因在出血性中风趋势中的增加不显着（ P = 0.31）。出血性中风（OR = 1.4）。结论： APOE 基因多态性与孟加拉族人群中风患者存在显着相关性。E4等位基因显着增加发生缺血性中风的风险，并且对出血性中风的趋势也没有显着增加。