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A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy

Item Type:Article
Title:A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy
Creators Name:Cavalleri, G.L. and Walley, N.M. and Soranzo, N. and Mulley, J. and Doherty, C.P. and Kapoor, A. and Depondt, C. and Lynch, J.M. and Scheffer, I.E. and Heils, A. and Gehrmann, A. and Kinirons, P. and Gandhi, S. and Satishchandra, P. and Wood, N.W. and Anand, A. and Sander, T. and Berkovic, S.F. and Delanty, N. and Goldstein, D.B. and Sisodiya, S.M.
Abstract:Purpose: 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.
Keywords:Association, Epilepsy, JME
Source:Epilepsia
ISSN:0013-9580
Publisher:Wiley-Blackwell (U.S.A.)
Volume:48
Number:4
Page Range:706-712
Date:April 2007
Official Publication:https://doi.org/10.1111/j.1528-1167.2007.00977.x
PubMed:View item in PubMed

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