期刊
NEUROSCIENCE LETTERS
卷 400, 期 1-2, 页码 135-139出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2006.02.026
关键词
photosensitivity; juvenile myoclonic epilepsy; BRD2; association; haplotype; genetics
A trait locus for electroencephalographic photoparoxysmal response (PPR) has been mapped to the chromosomal region 6p21 near a susceptibility locus for juvenile rnyoclonic epilepsy (WE). Linkage disequilibrium mapping revealed strong associations between JME and polymorphisms of the gene encoding the bromodomain-containing protein 2 (BRD2). The present association Study tested whether genetic variation of BRD2 confers also susceptibility to PPR. All study participants were of German descent, comprising 187 subjects exhibiting PPR (types I-IV) and 666 healthy controls. Genotypes of each study participant were assessed for seven single nucleotide polymorphisms and one dinucleotide repeat polymorphism. covering the genomic BRD2 sequence. Allelic and haplotypic associations were found between PPR and six BRD2 polymorphisms (P: 0.0075-0.035). Considering the strong neurobiological association of WE and PPR, the present results support evidence that PPR and JME share epileptogenic pathways. for which BRD2 might be an underlying susceptibility gene. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据