Wolking, Stefan ORCID: 0000-0002-1460-6623, Schulz, Herbert, Nies, Anne T., McCormack, Mark, Schaeffeler, Elke, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Klein, Karl M., Krenn, Martin, Moller, Rikke S., Nikanorova, Marina, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, 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 ORCID: 0000-0002-6065-1476, Zara, Federico, Zimprich, Fritz, Weber, Yvonne G., Krause, Roland, Sisodiya, Sanjay, Schwab, Matthias, Sander, Thomas and Lerche, Holger (2020). Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics, 21 (5). S. 325 - 336. LONDON: FUTURE MEDICINE LTD. ISSN 1744-8042

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Wolking, StefanUNSPECIFIEDorcid.org/0000-0002-1460-6623UNSPECIFIED
Schulz, HerbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nies, Anne T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McCormack, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaeffeler, ElkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Auce, PaulsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Avbersek, AndrejaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, FelicitasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klein, Karl M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krenn, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moller, Rikke S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nikanorova, MarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weckhuysen, SarahUNSPECIFIEDorcid.org/0000-0003-2878-1147UNSPECIFIED
Cavalleri, Gianpiero L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delanty, NormanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Depondt, ChantalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Johnson, Michael R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, Bobby P. C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kunz, Wolfram S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marson, Anthony G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, Josemir W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sills, Graeme J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Striano, PasqualeUNSPECIFIEDorcid.org/0000-0002-6065-1476UNSPECIFIED
Zara, FedericoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimprich, FritzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Yvonne G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krause, RolandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sisodiya, SanjayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwab, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-338123
DOI: 10.2217/pgs-2019-0179
Journal or Publication Title: Pharmacogenomics
Volume: 21
Number: 5
Page Range: S. 325 - 336
Date: 2020
Publisher: FUTURE MEDICINE LTD
Place of Publication: LONDON
ISSN: 1744-8042
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ANTIEPILEPTIC DRUG EFFICACY; VALPROIC ACID; 15Q13.3 MICRODELETIONS; ABSENCE EPILEPSY; ILAE COMMISSION; LAMOTRIGINE; MUTATIONS; POLYMORPHISMS; CHILDREN; VARIANTSMultiple languages
Pharmacology & PharmacyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/33812

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