Dai Alper I, Akcali Aylin, Koska Safinur, Oztuzcu Serdar, Cengiz Beyhan, Demiryürek Abdullah T
Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, University of Gaziantep, Gaziantep, Turkey
Faculty of Medicine, Department of Neurology, University of Gaziantep, Gaziantep, Turkey.
J Child Neurol. 2015 Mar;30(3):296-300. doi: 10.1177/0883073814539560. Epub 2014 Jul 9.
The purpose of this study was to investigate the possible association between childhood epilepsy and KCNJ10 gene polymorphisms (rs61822012 and rs2486253). A total of 200 epileptic cases and 200 healthy controls enrolled to this study. Genomic DNAs from the patients and control cases were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism methods. There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). T allele was also increased in patients with generalized tonic-clonic seizures (P = .0158). However, no statistically significant association was found between rs61822012 polymorphism and epilepsy. Our data suggest that G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy. The T allele of this polymorphism was found to be a seizure-susceptibility allele for tonic-clonic epilepsy.
本研究的目的是调查儿童癫痫与KCNJ10基因多态性（rs61822012和rs2486253）之间可能存在的关联。共有200例癫痫病例和200例健康对照纳入本研究。采用聚合酶链反应（PCR）和限制性片段长度多态性方法对患者和对照病例的基因组DNA进行分析。在特发性全身性癫痫组（P = .037）和全身性强直阵挛发作患者（P = .0015）中，KCNJ10基因rs2486253多态性的G/T基因型存在显著关联。全身性强直阵挛发作患者的T等位基因频率也有所增加（P = .0158）。然而，未发现rs61822012多态性与癫痫之间存在统计学上的显著关联。我们的数据表明，KCNJ10基因rs2486253多态性的G/T基因型影响儿童常见类型癫痫的发病风险。发现该多态性的T等位基因是强直阵挛性癫痫的癫痫易感性等位基因。
