Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/43415
Citations | ||
Scopus | Web of ScienceĀ® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy |
Author: | Cavalleri, G. Walley, N. Soranzo, N. Mulley, J. Doherty, C. Kapoor, A. Depondt, C. Lynch, J. Scheffer, I. Heils, A. Gehrmann, A. Kinirons, P. Gandhi, S. Satishchandra, P. Wood, N. Anand, A. Sander, T. Berkovic, S. Delanty, N. Goldstein, D. et al. |
Citation: | Epilepsia, 2007; 48(4):706-712 |
Publisher: | Blackwell Publishing Inc |
Issue Date: | 2007 |
ISSN: | 0013-9580 1528-1167 |
Statement of Responsibility: | Gianpiero L. Cavalleri, Nicole M. Walley, Nicole Soranzo, John Mulley, Colin P. Doherty, Ashish Kapoor, Chantal Depondt, John M. Lynch, Ingrid E. Scheffer, Armin Heils, Anne Gehrmann, Peter Kinirons, Sonia Gandhi, Parthasarathy Satishchandra, Nicholas W. Wood, Anuranjan Anand, Thomas Sander, Samuel F. Berkovic, Norman Delanty, David B. Goldstein, and Sanjay M. Sisodiya |
Abstract: | <h4>Purpose</h4>Although complex idiopathic generalized epilepsies (IGEs) are recognized to have a significant genetic component, as yet there are no known common susceptibility variants. It has recently been suggested that variation in the BRD2 gene confers increased risk of juvenile myoclonic epilepsy (JME), which accounts for around a quarter of all IGE. Here we examine the association between the candidate causal SNP (the promoter variant rs3918149) and JME in five independent cohorts comprising in total 531 JME cases and 1,390 healthy controls.<h4>Methods</h4>The strongest candidate causal variant from the original report (rs3918149) was genotyped across all five cohorts. In an effort to identify novel candidate causal polymorphisms, previously unscreened regions of UTR were resequenced.<h4>Results</h4>We observed a significant effect in a small sample recruited in Britain (genotype p = 0.001, allele p = 0.001), a borderline significant effect in a sample recruited in Ireland and no association in larger samples of German, Australian, and Indian populations. There was no association with other common forms of epilepsy or any other clear candidate casual variants in or near the BRD2 region.<h4>Conclusions</h4>The replication of an effect in the British cohort and suggestive evidence from that recruited in Ireland but lack of replication from the larger German, Australian, and Indian cohorts is surprising and difficult to explain. Further replication in carefully matched populations is required. Results presented here do not, however, support a strong effect for susceptibility to JME across populations of European descent. |
Keywords: | Humans Myoclonic Epilepsy, Juvenile Genetic Predisposition to Disease Transcription Factors Risk Factors Case-Control Studies Cohort Studies Genetics, Population Genotype Phenotype Genetic Heterogeneity Polymorphism, Single Nucleotide Promoter Regions, Genetic Genetic Variation United Kingdom Protein Serine-Threonine Kinases White People |
Description: | The definitive version is available at www.blackwell-synergy.com |
DOI: | 10.1111/j.1528-1167.2007.00977.x |
Published version: | http://dx.doi.org/10.1111/j.1528-1167.2007.00977.x |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.