Sander T, Schölz L, Janz D, Epplen J T, Riess O
Department of Neurology, Humboldt University Berlin, University Hospital Charité, Germany.
Epilepsy Res. 1999 Feb;33(2-3):227-33. doi: 10.1016/s0920-1211(98)00093-x.
The present association study tested whether length variations of two adjacent polymorphic CAG repeats in the coding sequence of a small-conductance, calcium-activated potassium channel (hKCa3) confer susceptibility to common subtypes of idiopathic generalized epilepsy (IGE). We found no significant difference in the allelic length distribution of the CAG repeats between 290 healthy German controls and the entire sample of 126 German IGE patients (Wilcoxon rank-sum test, P = 0.44) or two subgroups, comprising either 78 patients with juvenile myoclonic epilepsy (Wilcoxon rank-sum test, P = 0.74) or 59 patients with idiopathic absence epilepsies (Wilcoxon rank-sum test, P = 0.44). Moreover, the allelic distribution in parents-child trios of 46 IGE offspring did not differ significantly between the transmitted and non-transmitted parental alleles (Wilcoxon rank-sum test, P = 0.48). Therefore, our association study provides no evidence that length variations of polyglutamine arrays in the N-terminus of the hKCa3 channel exert a frequent and relevant effect in the epileptogenesis of common subtypes of IGE.
本关联研究检测了小电导钙激活钾通道（hKCa3）编码序列中两个相邻多态性CAG重复序列的长度变异是否会使个体易患特发性全身性癫痫（IGE）的常见亚型。我们发现，290名健康德国对照者与126名德国IGE患者的整个样本之间（Wilcoxon秩和检验，P = 0.44），以及两个亚组之间，即78名青少年肌阵挛癫痫患者亚组（Wilcoxon秩和检验，P = 0.74）或59名特发性失神癫痫患者亚组（Wilcoxon秩和检验，P = 0.44），CAG重复序列的等位基因长度分布均无显著差异。此外，在46名IGE后代的亲子三联体中，传递的和未传递的亲本等位基因之间的等位基因分布也无显著差异（Wilcoxon秩和检验，P = 0.48）。因此，我们的关联研究没有提供证据表明hKCa3通道N端的聚谷氨酰胺阵列长度变异在IGE常见亚型的癫痫发生中发挥频繁且相关的作用。
