Schulz, Herbert, Ruppert, Ann-Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, Vari, Maria S., Balagura, Ganna ORCID: 0000-0003-0212-8318, Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Blanche, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Moller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J. and Sander, Thomas (2019). No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia, 60 (5). S. E31 - 6. HOBOKEN: WILEY. ISSN 1528-1167

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Schulz, HerbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruppert, Ann-KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zara, FedericoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Madia, FrancescaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Iacomino, MicheleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vari, Maria S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Balagura, GannaUNSPECIFIEDorcid.org/0000-0003-0212-8318UNSPECIFIED
Minetti, CarloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Striano, PasqualeUNSPECIFIEDorcid.org/0000-0002-6065-1476UNSPECIFIED
Blanche, AmedeoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marini, CarlaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guerrini, RenzoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Yvonne G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, FelicitasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kapser, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schankin, Christoph J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kunz, Wolfram S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moller, Rikke S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oliver, Karen L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellows, Susannah T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mullen, Saul A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berkovic, Samuel F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scheffer, Ingrid E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caglayan, HandeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ozbek, UgurUNSPECIFIEDorcid.org/0000-0001-5319-0547UNSPECIFIED
Hoffmann, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schramm, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tsortouktzidis, DespinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, Albert J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-148748
DOI: 10.1111/epi.14657
Journal or Publication Title: Epilepsia
Volume: 60
Number: 5
Page Range: S. E31 - 6
Date: 2019
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1528-1167
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY LOCI; DNA METHYLATION; ASSOCIATION; LINKAGE; GENEMultiple languages
Clinical NeurologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14874

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