Reference : Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
Scientific journals : Article
Human health sciences : Neurology
Systems Biomedicine
http://hdl.handle.net/10993/43277
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
English
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 mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Sisodiya, Sanjay [> >]
Schwab, Matthias [> >]
Sander, Thomas [> >]
Lerche, Holger [> >]
20-Apr-2020
Pharmacogenomics
Ashley Publications
0
0
null
Yes (verified by ORBilu)
International
1462-2416
1744-8042
[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.
Researchers
http://hdl.handle.net/10993/43277
10.2217/pgs-2019-0179
https://doi.org/10.2217/pgs-2019-0179
PMID: 32308125
FP7 ; 279062 - EPIPGX - Epilepsy Pharmacogenomics: delivering biomarkers for clinical use

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