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  Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Schijven, D., Stevelink, R., McCormack, M., van Rheenen, W., Luykx, J. J., Koeleman, B. P., et al. (2020). Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy. Neurobiology of Aging, 92, 153.e1-153.e5. doi:10.1016/j.neurobiolaging.2020.04.011.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0006-6BDE-9 Version Permalink: https://hdl.handle.net/21.11116/0000-0007-57A4-E
Genre: Journal Article

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 Creators:
Schijven, Dick1, Author           
Stevelink, Remi1, Author
McCormack, Mark1, Author
van Rheenen, Wouter1, Author
Luykx, Jurjen J.1, Author
Koeleman, Bobby P.C.1, Author
Veldink, Jan H.1, Author
Project MinE ALS GWAS Consortium, Author              
International League Against Epilepsy Consortium on Complex Epilepsies, Author              
Affiliations:
1UMC Utrecht, ou_persistent22              

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Free keywords: ALS, Epilepsy, Genetic correlation
 Abstract: Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.

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Language(s): eng - English
 Dates: 2020-04-182020-08
 Publication Status: Issued
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 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.neurobiolaging.2020.04.011
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Title: Neurobiology of Aging
Source Genre: Journal
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Pages: - Volume / Issue: 92 Sequence Number: - Start / End Page: 153.e1 - 153.e5 Identifier: ISBN: 0197-4580