Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Melikgazi, 38039, Kayseri, Turkey.
Molecular Biology and Genetic Department, Genome and Stem Cell Center (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Melikgazi, 38039, Kayseri, Turkey.
J Thromb Thrombolysis. 2019 May;47(4):578-584. doi: 10.1007/s11239-018-01802-9.
Ischemic stroke is a significant health condition, whose frequency in childhood is increasing day by day. Although many factors are effective in development of the stroke, it has been showed that individuals having risk factors have a genetic predisposition. The aim of the study is to determine whether distinct genetic mutations are risk factors for children with history of ischemic stroke. Our sample data is taken from 58 patients (29 male and 29 female) who applied our hospital between 2012 and 2016 with diagnosis of acute or chronic arterial stroke and from 70 healthy children (32 male and 38 female) with similar particularities in the sense of age and sex, who have not any chronical disease. Blood samples are taken from each child participated in the study to conduct genetic analysis. It has been examined whether a mutation exists in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736). Moreover, whether there are significant difference between patient and control group has been investigated. In the genetic analysis of patients and control groups, no significant difference has been found for any of the genes. Mutations in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736) are not risk factors for ischemic stroke in childhood. However this study showed us, the patients who inherit CDKN2B-AS1 and HDCA9 gene mutations had poor prognosis. However, this study should be replicated for a wider sample of patient population.
缺血性中风是一种严重的健康状况,其在儿童中的发病率日益增加。虽然许多因素都会影响中风的发生,但已经表明有风险因素的个体存在遗传易感性。本研究旨在确定是否存在不同的基因突变是导致有缺血性中风病史的儿童发病的危险因素。我们的样本数据来自于 2012 年至 2016 年间在我院就诊的 58 名(男 29 名,女 29 名)急性或慢性动脉性中风患儿和 70 名(男 32 名,女 38 名)具有相似年龄和性别特征但无任何慢性疾病的健康儿童。从每个参与研究的儿童身上采集血样进行基因分析。检测基因位置 CDKN2B-AS1 (Rs2383206)、HDAC9 (Rs11984041)、NINJ2 (Rs12425791)、NAA25 (Rs17696736)是否存在突变。同时,还调查了患者组和对照组之间是否存在显著差异。在对患者组和对照组的基因分析中,没有发现任何基因存在显著差异。基因位置 CDKN2B-AS1 (Rs2383206)、HDAC9 (Rs11984041)、NINJ2 (Rs12425791)、NAA25 (Rs17696736)的基因突变不是儿童缺血性中风的危险因素。然而,本研究表明,遗传 CDKN2B-AS1 和 HDCA9 基因突变的患者预后较差。然而,这项研究应该在更广泛的患者人群中进行复制。