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No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Authors :
Schulz H
Ruppert AK
Zara F
Madia F
Iacomino M
S Vari M
Balagura G
Minetti C
Striano P
Bianchi A
Marini C
Guerrini R
Weber YG
Becker F
Lerche H
Kapser C
Schankin CJ
Kunz WS
Møller RS
Oliver KL
Bellows ST
Mullen SA
Berkovic SF
Scheffer IE
Caglayan H
Ozbek U
Hoffmann P
Schramm S
Tsortouktzidis D
Becker AJ
Sander T
Source :
Epilepsia [Epilepsia] 2019 May; Vol. 60 (5), pp. e31-e36. Date of Electronic Publication: 2019 Feb 04.
Publication Year :
2019

Abstract

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. In contrast, we found a uniform low average percentage of methylation (<4.5%) for 13 CpG76-CpGs in whole blood cells from 782 unrelated European Caucasians, including 116 JME patients, 196 patients with genetic absence epilepsies, and 470 control subjects. We also failed to confirm an allelic association of the BRD2 promoter single nucleotide polymorphism (SNP) rs3918149 with JME (Armitage trend test, P = 0.98), and we did not detect a substantial impact of SNP rs3918149 on CpG76 methylation in either 116 JME patients (methylation quantitative trait loci [meQTL], P = 0.29) or 470 German control subjects (meQTL, P = 0.55). Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.<br /> (Wiley Periodicals, Inc. © 2019 International League Against Epilepsy.)

Details

Language :
English
ISSN :
1528-1167
Volume :
60
Issue :
5
Database :
MEDLINE
Journal :
Epilepsia
Publication Type :
Academic Journal
Accession number :
30719712
Full Text :
https://doi.org/10.1111/epi.14657