Wolking, S;
Schulz, H;
Nies, AT;
McCormack, M;
Schaeffeler, E;
Auce, P;
Avbersek, A;
... Lerche, H; + view all
(2020)
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Pharmacogenomics
, 21
(5)
pp. 325-335.
10.2217/pgs-2019-0179.
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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.
| Type: | Article |
|---|---|
| Title: | Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.2217/pgs-2019-0179 |
| Publisher version: | https://doi.org/10.2217/pgs-2019-0179 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | GWAS, antiepileptic drugs, genetic generalized epilepsy, lamotrigine, levetiracetam, pharmacoresistance, valproic acid |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10096586 |
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