Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43415
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dc.contributor.authorCavalleri, G.en
dc.contributor.authorWalley, N.en
dc.contributor.authorSoranzo, N.en
dc.contributor.authorMulley, J.en
dc.contributor.authorDoherty, C.en
dc.contributor.authorKapoor, A.en
dc.contributor.authorDepondt, C.en
dc.contributor.authorLynch, J.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorHeils, A.en
dc.contributor.authorGehrmann, A.en
dc.contributor.authorKinirons, P.en
dc.contributor.authorGandhi, S.en
dc.contributor.authorSatishchandra, P.en
dc.contributor.authorWood, N.en
dc.contributor.authorAnand, A.en
dc.contributor.authorSander, T.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorDelanty, N.en
dc.contributor.authorGoldstein, D.en
dc.contributor.authoret al.en
dc.date.issued2007en
dc.identifier.citationEpilepsia, 2007; 48(4):706-712en
dc.identifier.issn0013-9580en
dc.identifier.issn1528-1167en
dc.identifier.urihttp://hdl.handle.net/2440/43415-
dc.descriptionThe definitive version is available at www.blackwell-synergy.comen
dc.description.abstractPURPOSE: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. METHODS: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. RESULTS: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. CONCLUSIONS: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.en
dc.description.statementofresponsibilityGianpiero 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. Sisodiyaen
dc.language.isoenen
dc.publisherBlackwell Publishing Incen
dc.subjectHumans; Myoclonic Epilepsy, Juvenile; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Risk Factors; Case-Control Studies; Cohort Studies; Genetics, Population; Genotype; Phenotype; Genetic Heterogeneity; Polymorphism, Single Nucleotide; European Continental Ancestry Group; Promoter Regions, Genetic; Genetic Variation; United Kingdomen
dc.titleA multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsyen
dc.typeJournal articleen
dc.identifier.rmid0020070558en
dc.identifier.doi10.1111/j.1528-1167.2007.00977.xen
dc.identifier.pubid48988-
pubs.library.collectionMolecular and Biomedical Science publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Molecular and Biomedical Science publications

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