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Article: Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

TitleGenome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Authors
Keywordscase control study
chromosomal mapping
classification
epilepsygene expression
regulation
Issue Date2018
PublisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/ncomms/index.html
Citation
Nature Communications, 2018, v. 9, p. article no. 5269 How to Cite?
AbstractThe epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression in the brain. The results show an enrichment for monogenic epilepsy genes as well as known targets of antiepileptic drugs. Using SNP-based heritability analyses we disentangle both the unique and overlapping genetic basis to seven different epilepsy subtypes. Together, these findings provide leads for epilepsy therapies based on underlying pathophysiology.
Persistent Identifierhttp://hdl.handle.net/10722/280126
ISSN
2023 Impact Factor: 14.7
2023 SCImago Journal Rankings: 4.887
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorInternational League Against Epilepsy Consortium on Complex Epilepsies-
dc.contributor.authorBaum, L-
dc.contributor.authorCherny, SS-
dc.contributor.authorLau, Y-L-
dc.date.accessioned2020-01-06T02:01:24Z-
dc.date.available2020-01-06T02:01:24Z-
dc.date.issued2018-
dc.identifier.citationNature Communications, 2018, v. 9, p. article no. 5269-
dc.identifier.issn2041-1723-
dc.identifier.urihttp://hdl.handle.net/10722/280126-
dc.description.abstractThe epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression in the brain. The results show an enrichment for monogenic epilepsy genes as well as known targets of antiepileptic drugs. Using SNP-based heritability analyses we disentangle both the unique and overlapping genetic basis to seven different epilepsy subtypes. Together, these findings provide leads for epilepsy therapies based on underlying pathophysiology.-
dc.languageeng-
dc.publisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/ncomms/index.html-
dc.relation.ispartofNature Communications-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectcase control study-
dc.subjectchromosomal mapping-
dc.subjectclassification-
dc.subjectepilepsygene expression-
dc.subjectregulation-
dc.titleGenome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies-
dc.typeArticle-
dc.identifier.emailBaum, L: lwbaum@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailLau, Y-L: lauylung@hku.hk-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authorityLau, Y-L=rp00361-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/s41467-018-07524-z-
dc.identifier.pmid30531953-
dc.identifier.pmcidPMC6288131-
dc.identifier.scopuseid_2-s2.0-85058609178-
dc.identifier.hkuros308868-
dc.identifier.volume9-
dc.identifier.spagearticle no. 5269-
dc.identifier.epagearticle no. 5269-
dc.identifier.isiWOS:000452633700009-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl2041-1723-

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