Journal Article


Sanjay M Sisodiya
David B Goldstein
Norman Delanty
Samuel F Berkovic
Thomas Sander
Anuranjan Anand
Nicholas W Wood
Parthasarathy Satishchandra
Sonia Gandhi
Peter Kinirons
and 11 others



genetics genetic predisposition to disease genetics population cohort studies myoclonic epilepsy juvenile protein serine threonine kinases case control studies european continental ancestry group epidemiology promoter regions genetic genetic heterogeneity risk factors great britain humans genetic variation polymorphism single nucleotide phenotype genotype brd2 protein human statistics numerical data

A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. (2007)

Abstract 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. 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. 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. 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.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Sanjay M Sisodiya, David B Goldstein, Norman Delanty, Samuel F Berkovic, Thomas Sander, Anuranjan Anand, Nicholas W Wood, Parthasarathy Satishchandra, Sonia Gandhi, Peter Kinirons and 11 others

Experts in our system

Sanjay M Sisodiya
Royal College of Surgeons in Ireland
Total Publications: 13
David B Goldstein
Royal College of Surgeons in Ireland
Norman Delanty
Royal College of Surgeons in Ireland
Total Publications: 41