Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy
Publication date
2020-08
Authors
Project MinE ALS GWAS Consortium
International League Against Epilepsy Consortium on Complex Epilepsies
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
cc_by
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.
Keywords
ALS, Amyotrophic Lateral Sclerosis/genetics, Epilepsy/genetics, Gene Frequency, Genetic Variation, Genetic correlation, Genome-Wide Association Study, Humans, Negative Results, Risk, General Neuroscience, Ageing, Clinical Neurology, Developmental Biology, Geriatrics and Gerontology, Journal Article, Research Support, Non-U.S. Gov't
Citation
Project MinE ALS GWAS Consortium & International League Against Epilepsy Consortium on Complex Epilepsies 2020, 'Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy', Neurobiology of Aging, vol. 92, pp. 153.e1-153.e5. https://doi.org/10.1016/j.neurobiolaging.2020.04.011, https://doi.org/10.1016/j.neurobiolaging.2020.04.011