Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

Wolking, Stefan; Schulz, Herbert; Nies, Anne T.; McCormack, Mark; Schaeffeler, Elke; Auce, Pauls; Avbersek, Andreja; Becker, Felicitas; Klein, Karl M.; Krenn, Martin; Møller, Rikke S.; Nikanorova, Marina; Weckhuysen, Sarah; Consortium, Epipgx; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Kunz, Wolfram S.; Marson, Anthony G.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Zimprich, Fritz; Weber, Yvonne G.; Krause, Roland; Sisodiya, Sanjay; Schwab, Matthias; Sander, Thomas; Lerche, Holger

doi:10.2217/pgs-2019-0179

Reference : Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Neurology
	Focus Areas :	Systems Biomedicine
	To cite this reference:	http://hdl.handle.net/10993/43277

Title :	Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
Language :	English
Author, co-author :	Wolking, Stefan [> >]
	Schulz, Herbert [> >]
	Nies, Anne T. [> >]
	McCormack, Mark [> >]
	Schaeffeler, Elke [> >]
	Auce, Pauls [> >]
	Avbersek, Andreja [> >]
	Becker, Felicitas [> >]
	Klein, Karl M. [> >]
	Krenn, Martin [> >]
	Møller, Rikke S. [> >]
	Nikanorova, Marina [> >]
	Weckhuysen, Sarah [> >]
	Consortium, Epipgx [> >]
	Cavalleri, Gianpiero L. [> >]
	Delanty, Norman [> >]
	Depondt, Chantal [> >]
	Johnson, Michael R. [> >]
	Koeleman, Bobby P. C. [> >]
	Kunz, Wolfram S. [> >]
	Marson, Anthony G. [> >]
	Sander, Josemir W. [> >]
	Sills, Graeme J. [> >]
	Striano, Pasquale [> >]
	Zara, Federico [> >]
	Zimprich, Fritz [> >]
	Weber, Yvonne G. [> >]
	Krause, Roland [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
	Sisodiya, Sanjay [> >]
	Schwab, Matthias [> >]
	Sander, Thomas [> >]
	Lerche, Holger [> >]
Publication date :	20-Apr-2020
Journal title :	Pharmacogenomics
Publisher :	Ashley Publications
Volume :	0
Issue/season :	0
Pages :	null
Peer reviewed :	Yes (verified by ORBi^lu)
Audience :	International
ISSN :	1462-2416
e-ISSN :	1744-8042
Abstract :	[en] Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE – responsive or nonresponsive to lamotrigine, levetiracetam and valproic acid. Results: Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p <10-5) but no significant association reflecting its limited power. The suggestive associations highlight candidate genes that are implicated in epileptogenesis and neurodevelopment. Conclusion: This first GWAS of AED response in GGE provides a comprehensive reference of SNP associations for hypothesis-driven candidate gene analyses in upcoming pharmacogenetic studies.
Target :	Researchers
Permalink :	http://hdl.handle.net/10993/43277
DOI :	10.2217/pgs-2019-0179
Other URL :	https://doi.org/10.2217/pgs-2019-0179
Commentary :	PMID: 32308125
Framework Programme / European Project :	FP7 ; 279062 - EPIPGX - Epilepsy Pharmacogenomics: delivering biomarkers for clinical use

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