Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/20339
Title: No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Austin Authors: Schulz, Herbert;Ruppert, Ann-Kathrin;Zara, Federico;Madia, Francesca;Iacomino, Michele;S Vari, Maria;Balagura, Ganna;Minetti, Carlo;Striano, Pasquale;Bianchi, Amedeo;Marini, Carla;Guerrini, Renzo;Weber, Yvonne G;Becker, Felicitas;Lerche, Holger;Kapser, Claudia;Schankin, Christoph J;Kunz, Wolfram S;Møller, Rikke S;Oliver, Karen L;Bellows, Susannah T;Mullen, Saul A ;Berkovic, Samuel F ;Scheffer, Ingrid E ;Caglayan, Hande;Ozbek, Ugur;Hoffmann, Per;Schramm, Sara;Tsortouktzidis, Despina;Becker, Albert J;Sander, Thomas
Affiliation: Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Institute of Medical Genetics and Pathology, University Hospital of Basel, Basel, Switzerland
Translational Epilepsy Research, Department of Neuropathology, University of Bonn Medical Center, Bonn, Germany
Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence, Italy
Division of Neurology, Hospital San Donato Arezzo, Arezzo, Italy
Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey
Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genoa, Italy
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini Institute, Genoa, Italy
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark..
Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Cologne Center for Genomics, University of Cologne, Cologne, Germany
Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany
Department of Neurology, University of Ulm, Ulm, Germany
Department of Neurology, Großhadern Hospital, University of Munich, Munich, Germany
Department of Epileptology, Institute of Experimental Epileptology and Cognition Research, University of Bonn Medical Center, Bonn, Germany
Department of Genomics, Life and Brain Center, Institute of Human Genetics, University of Bonn, Bonn, Germany
Institute of Medical Informatics, Biometry, and Epidemiology, University of Duisburg-Essen, Essen, Germany
Danish Epilepsy Center, Dianalund, Denmark
Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland
Izmir Biomedicine and Genome Center, Izmir, Turkey..
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Department of Medical Genetics, Faculty of Medicine, Acibadem University, Istanbul, Turkey..
Issue Date: May-2019
metadata.dc.date: 2019-02-04
Publication information: Epilepsia 2019; 60(5): e31-e36
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/20339
DOI: 10.1111/epi.14657
ORCID: 0000-0002-6065-1476
0000-0003-4580-841X
0000-0002-2311-2174
PubMed URL: 30719712
Type: Journal Article
Subjects: BRD2
DNA methylation
association analysis
genetic generalized epilepsy
juvenile myoclonic epilepsy
Appears in Collections:Journal articles

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