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Abou-Khalil, B.* ; Auce, P.* ; Avbersek, A.* ; Bahlo, M.* ; Balding, D.J.* ; Bast, T.* ; Baum, L.* ; Becker, A.J.* ; Becker, F.* ; Berghuis, B.* ; Berkovic, S.F.* ; Boysen, K.E.* ; Bradfield, J.P.* ; Brody, L.C.* ; Buono, R.J.* ; Campbell, E.* ; Cascino, G.D.* ; Catarino, C.B.* ; Cavalleri, G.L.* ; Cherny, S.S.* ; Chinthapalli, K.* ; Coffey, A.J.* ; Compston, A.* ; Coppola, A.* ; Cossette, P.* ; Craig, J.J.* ; de Haan, G.J.* ; de Jonghe, P.* ; de Kovel, C.G.F.* ; Delanty, N.* ; Depondt, C.* ; Devinsky, O.* ; Dlugos, D.J.* ; Doherty, C.P.* ; Elger, C.E.* ; Eriksson, J.G.* ; Ferraro, T.N.* ; Feucht, M.* ; Francis, B.* ; Franke, A.* ; French, J.A.* ; Freytag, S.* ; Gaus, V.* ; Geller, E.B.* ; Gieger, C. ; Glauser, T.* ; Glynn, S.* ; Goldstein, D.B.* ; Gui, H.* ; Guo, Y.* ; Haas, K.F.* ; Hakonarson, H.* ; Hallmann, K.* ; Strauch, K. ; Zara, F.* ; Helbig, I.* ; Hengsbach, C.* ; Hjalgrim, H.* ; Iacomino, M.* ; Ingason, A.* ; Jamnadas-Khoda, J.* ; Johnson, M.R.* ; Kälviäinen, R.* ; Kantanen, A.M.* ; Kasperavičiūte, D.* ; Kasteleijn-Nolst Trenite, D.* ; Kirsch, H.E.* ; Knowlton, R.C.* ; Koeleman, B.P.C.* ; Krause, R.* ; Krenn, M.* ; Kunz, W.S.* ; Kuzniecky, R.* ; Kwan, P.* ; Zimprich, F.*

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

Nat. Commun. 9:5269 (2018)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
The 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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ld Score Regression; Susceptibility Loci; Genetic Architecture; Snp Heritability; Ilae Commission; Frontal-lobe; Association; Metaanalysis; Expression; Absence
Sprache englisch
Veröffentlichungsjahr 2018
HGF-Berichtsjahr 2018
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 9, Heft: 1, Seiten: , Artikelnummer: 5269 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504091-004
G-504100-001
DOI 10.1038/s41467-018-07524-z
WOS ID WOS:000452633700009
Scopus ID 85136267598
Scopus ID 85058169154
PubMed ID 30531953
Erfassungsdatum 2018-12-21
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