Kopyta I, Niemiec P, Balcerzyk A, Emich-Widera E, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, Nowak T, Iwanicki T, Sarecka-Hujar B, Zak I
School of Medicine in Katowice, Medical University of Silesia, Department of Paediatrics and Developmental Age Neurology, Chair of Paediatrics, Medykow Str 16, 40-752 Katowice, Poland.
School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Str 18, 40-752 Katowice, Poland.
Eur J Paediatr Neurol. 2015 Mar;19(2):176-80. doi: 10.1016/j.ejpn.2014.11.011. Epub 2014 Dec 9.
BACKGROUND/PURPOSE: Data on the role of the -455G > A polymorphism of the gene encoding β fibrinogen subunit (FGB) and the Thr312Ala polymorphism of the gene for the α fibrinogen subunit (FGA) in childhood ischemic stroke are insufficient. Therefore the aim of the study was to evaluate a possible association between these two polymorphisms and arterial ischemic stroke.
The study group consisted of 85 children after ischemic stroke, 146 of their parents and 159 controls. Both polymorphisms were genotyped using the restriction fragment length polymorphism method. Two study designs were used: a case-control model and a family-based transmission-disequilibrium test. Statistica 7.1 and EpiInfo 6 softwares were used in all analyses.
In the TDT test, a tendency to a higher transmission of the 312Ala allele of the FGA gene and the -455A allele of the FGB gene was observed, however, it was statistically non-significant. The frequencies of alleles and genotypes of both FGA and FGB genes polymorphisms did not differentiate children from both groups also in the case-control model. Additive or synergistic effects between FGA and FGB genes polymorphisms were not observed.
An analysis of the results obtained in this study and a critical review of previously published data indicate that examined gene polymorphisms are not related to ischemic stroke in children.
背景/目的:关于β纤维蛋白原亚基(FGB)编码基因的-455G>A多态性以及α纤维蛋白原亚基(FGA)基因的Thr312Ala多态性在儿童缺血性卒中中的作用的数据不足。因此,本研究的目的是评估这两种多态性与动脉缺血性卒中之间可能存在的关联。
研究组由85名缺血性卒中患儿、146名患儿父母和159名对照组成。采用限制性片段长度多态性方法对两种多态性进行基因分型。使用了两种研究设计:病例对照模型和基于家系的传递不平衡检验。所有分析均使用Statistica 7.1和EpiInfo 6软件。
在传递不平衡检验中,观察到FGA基因的312Ala等位基因和FGB基因的-455A等位基因有较高传递的趋势,然而,在统计学上无显著意义。在病例对照模型中,FGA和FGB基因多态性的等位基因和基因型频率也未区分两组儿童。未观察到FGA和FGB基因多态性之间的加性或协同效应。
对本研究所得结果的分析以及对先前发表数据的批判性回顾表明,所检测的基因多态性与儿童缺血性卒中无关。