Association of BRD2 polymorphisms with photoparoxysmal response

被引：44

作者：

Lorenz, Susanne

Taylor, Kirsten P.

Gehrmann, Anne

Becker, Tim

Muhle, Hiltrud

Gresch, Meike

Tauer, Ulrike

Sander, Thomas

Stephani, Ulrich

机构：

[1] Max Delbruck Ctr Mol Med, Gene Mapping Ctr, D-13125 Berlin, Germany

[2] Humboldt Univ, Epilepsy Genet Grp, Dept Neurol, Charite Univ Med, Berlin, Germany

[3] Univ Bonn, D-5300 Bonn, Germany

[4] Univ Clin Schleswig Holstein, Clin Neuropaediat, Kiel, Germany

来源：

NEUROSCIENCE LETTERS | 2006年 / 400卷 / 1-2期

关键词：

photosensitivity; juvenile myoclonic epilepsy; BRD2; association; haplotype; genetics;

D O I：

10.1016/j.neulet.2006.02.026

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：135 / 139

页数：5

共 31 条

[1] PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].