Niemiec Pawel, Balcerzyk Anna, Iwanicki Tomasz, Emich-Widera Ewa, Kopyta Ilona, Nowak Tomasz, Pilarska Ewa, Pienczk-Ręcławowicz Karolina, Kaciński Marek, Wendorff Janusz, Gorczynska-Kosiorz Sylwia, Trautsolt Wanda, Grzeszczak Władysław, Zak Iwona
Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
J Stroke Cerebrovasc Dis. 2017 Dec;26(12):2763-2768. doi: 10.1016/j.jstrokecerebrovasdis.2017.06.053. Epub 2017 Aug 1.
The association of 9p21.3 locus single nucleotide polymorphisms with arterial ischemic stroke in adults was demonstrated in many studies, but there are no studies in pediatric arterial ischemic stroke patients. We investigated whether the 9p21.3 locus polymorphism, namely rs10757278, is associated with the arterial ischemic stroke risk in children.
The study group consisted of 335 individuals: 80 children with arterial ischemic stroke, their biological parents (n = 122), and 133 children (age and sex matched) without any symptoms of arterial ischemic stroke as a control group. The rs10757278 polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). Two different study design models were used: family-based association test (transmission-disequilibrium test) and case-control model.
There were no statistically significant differences in the distribution of genotypes and alleles of the rs10757278 polymorphism between groups of children with arterial ischemic stroke and controls. The frequency of both transmitted alleles in transmission-disequilibrium test analysis was identical (50%). The A allele carrier state (AA+AG genotype) was more frequent in arterial ischemic stroke children with hemiparesis than in patients without this symptom (94.5% versus 68.0%, P = .004).
There is no evidence to consider the 9p21.3 locus polymorphism as a risk factor for childhood arterial ischemic stroke.
多项研究证实9p21.3位点单核苷酸多态性与成人动脉缺血性卒中相关，但尚无针对儿童动脉缺血性卒中患者的研究。我们调查了9p21.3位点多态性（即rs10757278）是否与儿童动脉缺血性卒中风险相关。
研究组由335名个体组成：80例动脉缺血性卒中患儿、他们的亲生父母（n = 122）以及133名无动脉缺血性卒中任何症状的儿童（年龄和性别匹配）作为对照组。使用TaqMan®预设计SNP基因分型检测法（应用生物系统公司）对rs10757278多态性进行基因分型。采用两种不同的研究设计模型：基于家系的关联检验（传递不平衡检验）和病例对照模型。
动脉缺血性卒中患儿组与对照组之间，rs10757278多态性的基因型和等位基因分布无统计学显著差异。传递不平衡检验分析中两个传递等位基因的频率相同（50%）。有偏瘫的动脉缺血性卒中患儿中A等位基因携带者状态（AA + AG基因型）比无此症状的患者更常见（94.5%对68.0%，P = 0.004）。
没有证据表明9p21.3位点多态性是儿童动脉缺血性卒中的危险因素。
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