Evidence map›Paper›PMID 30719712›Full record

ArticleEpilepsia2019

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

Herbert Schulz, Ann-Kathrin Ruppert, Federico Zara, Francesca Madia, Michele Iacomino, Maria S Vari, Ganna Balagura, Carlo Minetti, Pasquale Striano, Amedeo Bianchi and 21 more

Open access · bronzeAbstract readComparative StudyMulticenter Study
PubMed Publisher
In one paragraph

Article in Epilepsia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors at 14 institutions in 6 countries.

Herbert SchulzCologne Center for Genomics, University of Cologne, Cologne, Germany.
Ann-Kathrin RuppertCologne Center for Genomics, University of Cologne, Cologne, Germany.
Federico ZaraLaboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genoa, Italy.
Francesca MadiaLaboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genoa, Italy.
Michele IacominoLaboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genoa, Italy.
Maria S VariPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini Institute, Genoa, Italy.
Ganna BalaguraPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini Institute, Genoa, Italy.
Carlo MinettiPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini Institute, Genoa, Italy.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini Institute, Genoa, Italy.ORCID 0000-0002-6065-1476
Amedeo BianchiDivision of Neurology, Hospital San Donato Arezzo, Arezzo, Italy.
Carla MariniPediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Renzo GuerriniPediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Yvonne G WeberDepartment of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Felicitas BeckerDepartment of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Claudia KapserDepartment of Neurology, Großhadern Hospital, University of Munich, Munich, Germany.
Christoph J SchankinDepartment of Neurology, Großhadern Hospital, University of Munich, Munich, Germany.
Wolfram S KunzDepartment of Epileptology, Institute of Experimental Epileptology and Cognition Research, University of Bonn Medical Center, Bonn, Germany.
Rikke S MøllerDanish Epilepsy Center, Dianalund, Denmark.
Karen L OliverEpilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
Susannah T BellowsEpilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
Saul A MullenEpilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0003-4580-841X
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
Hande CaglayanDepartment of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
Ugur OzbekDepartment of Medical Genetics, Faculty of Medicine, Acibadem University, Istanbul, Turkey.
Per HoffmannDepartment of Genomics, Life and Brain Center, Institute of Human Genetics, University of Bonn, Bonn, Germany.
Sara SchrammInstitute of Medical Informatics, Biometry, and Epidemiology, University of Duisburg-Essen, Essen, Germany.
Despina TsortouktzidisTranslational Epilepsy Research, Department of Neuropathology, University of Bonn Medical Center, Bonn, Germany.
Albert J BeckerTranslational Epilepsy Research, Department of Neuropathology, University of Bonn Medical Center, Bonn, Germany.
Thomas SanderCologne Center for Genomics, University of Cologne, Cologne, Germany.
Istituto Giannina Gaslini · ITThe University of Melbourne · AUUniversity of Bonn · DEUniversity of Cologne · DEHertie Institute for Clinical Brain Research · DEMeyer Children's Hospital · ITAcıbadem University · TRIzmir University · TRLudwig-Maximilians-Universität München · DEOspedale San Donato · ITUniversität Ulm · DEUniversity of Bern · CHUniversity of Duisburg-Essen · DEUniversity of Southern Denmark · DK

Funding

Boğaziçi University Research Fund 05HB104DBoğaziçi University Research Fund 06B107DBoğaziçi University Research Fund 08HB104DDFG ER155/6-1DFG SI236/8-1DFG SI236/9-1DFG Research Unit FOR2715 BE2078/5-1DFG Research Unit FOR2715 LE1030/16-1DFG Research Unit FOR2715 SA434/6-1DFG Research Unit FOR2715 WE4896/3-1DFG Research Unit FOR2715 WE4896/4-1EPITARGET 602102EUROCORES Program EuroEPINOMICS SA434/5-1FP6 Integrated Project EPICURE LSHM-CT-2006-037315FP7 DESIRE 602531German Ministry of Education and ScienceHeinz Nixdorf FoundationIntenC TUR 09/I10National Health and Medical Research CouncilNGFNplus EMINet 01GS08120NGFNplus EMINet 01GS08123Scientific and Technological Research Council of Turkey 106S027
6 · The paper itself

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.

Indexed as

DNA MethylationBromodomain Containing ProteinsCpG IslandsEpilepsy, AbsenceEuropeFemaleHumansLeukocytesMaleMyoclonic Epilepsy, JuvenilePolymorphism, Single NucleotidePromoter Regions, GeneticTranscription FactorsBRD2 protein, humanBromodomain Containing ProteinsTranscription Factorsassociation analysisBRD2DNA methylationgenetic generalized epilepsyjuvenile myoclonic epilepsy

Identifiers

PMID30719712
OpenAlexW2911638674

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.