Balcerzyk Anna, Niemiec Paweł, Iwanicki Tomasz, Nowak Tomasz, Kopyta Ilona, Emich-Widera Ewa, Pilarska Ewa, Pienczk-Ręcławowicz Karolina, Kaciński Marek, Wendorff Janusz, Górczyńska-Kosiorz Sylwia, Grzeszczak Władyslaw, Żak Iwona
Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
J Stroke Cerebrovasc Dis. 2018 Jul;27(7):1885-1889. doi: 10.1016/j.jstrokecerebrovasdis.2018.02.034. Epub 2018 Mar 26.
Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene.
The study group consisted of 82 children with stroke, 156 parents, and 146 controls. We used 2 alternative methods: the case-control model and the analysis of families using the transmission disequilibrium test. The 2 polymorphisms, rs2516839 and rs3737787, were genotyped using the TaqMan Pre-Designed SNP Genotyping Assay. The Statistica 10.0 software was used in all statistical analyses.
We did not observe any statistical differences in genotype and allele frequencies between patients and controls. There were also no significant differences in the transmission of alleles from the parents to the affected children. However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning.
Our study did not show any associations between the 2 analyzed polymorphisms of the USF-1 gene and pediatric ischemic stroke. However, we have observed an influence of specific genotypes on the outcome of stroke, including epilepsy, dysarthria, and a decrease in intellectual functioning.
儿童缺血性中风是发病和死亡的重要原因。正如先前对中风后儿童的研究所显示的，血脂异常在波兰和其他欧洲人群中非常常见。因此，为了寻找导致儿童中风、其症状和预后的遗传因素，我们分析了上游刺激因子1（USF-1）基因的2个多态性。
研究组包括82名中风儿童、156名父母和146名对照。我们使用了2种替代方法：病例对照模型和使用传递不平衡检验的家系分析。使用TaqMan预设计SNP基因分型检测对rs2516839和rs3737787这2个多态性进行基因分型。所有统计分析均使用Statistica 10.0软件。
我们未观察到患者与对照之间在基因型和等位基因频率上有任何统计学差异。从父母向患病子女传递等位基因方面也没有显著差异。然而，我们观察到rs2516839多态性的TT基因型在癫痫和构音障碍患者中更常见，而rs3737787多态性的TT基因型在智力功能下降的患者组中更频繁。
我们的研究未显示USF-1基因的2个分析多态性与儿童缺血性中风之间有任何关联。然而，我们观察到特定基因型对中风预后有影响，包括癫痫、构音障碍和智力功能下降。
