Article (Scientific journals)
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
Wolking, Stefan; Schulz, Herbert; Nies, Anne T. et al.
2020In Pharmacogenomics, 0 (0)
Peer Reviewed verified by ORBi
 

Files


Full Text
wolking2020.pdf
Publisher postprint (923.89 kB)
Request a copy

All documents in ORBilu are protected by a user license.

Send to



Details



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.
Disciplines :
Neurology
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
More authors (22 more) Less
External co-authors :
yes
Language :
English
Title :
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
Publication date :
20 April 2020
Journal title :
Pharmacogenomics
ISSN :
1462-2416
eISSN :
1744-8042
Publisher :
Ashley Publications
Volume :
0
Issue :
0
Pages :
null
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
European Projects :
FP7 - 279062 - EPIPGX - Epilepsy Pharmacogenomics: delivering biomarkers for clinical use
Funders :
CE - Commission Européenne
European Union
Commentary :
PMID: 32308125
Available on ORBilu :
since 27 May 2020

Statistics


Number of views
89 (2 by Unilu)
Number of downloads
1 (1 by Unilu)

Scopus citations®
 
20
Scopus citations®
without self-citations
13
OpenCitations
 
14
OpenAlex citations
 
31
WoS citations
 
21

Bibliography


Similar publications



Contact ORBilu