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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Zhang, Sai (author)
Stanford University
Cooper-Knock, Johnathan (author)
University of Sheffield
Weimer, Annika K (author)
Stanford University
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Shi, Minyi (author)
Stanford University
Moll, Tobias (author)
University of Sheffield
Marshall, Jack N G (author)
University of Sheffield
Harvey, Calum (author)
University of Sheffield
Nezhad, Helia Ghahremani (author)
Sheffield Hallam University
Franklin, John (author)
University of Sheffield
Souza, Cleide Dos Santos (author)
University of Sheffield
Ning, Ke (author)
University of Sheffield
Wang, Cheng (author)
University of California, San Francisco
Li, Jingjing (author)
University of California, San Francisco
Dilliott, Allison A (author)
McGill University
Farhan, Sali (author)
McGill University
Elhaik, Eran (author)
Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Bioinformatik,Forskargrupper vid Lunds universitet,Molecular Cell Biology,Department of Biology,Faculty of Science,Bioinformatics,Lund University Research Groups
Pasniceanu, Iris (author)
University of Sheffield
Livesey, Matthew R (author)
University of Sheffield
Eitan, Chen (author)
Weizmann Institute of Science Israel
Hornstein, Eran (author)
Weizmann Institute of Science Israel
Kenna, Kevin P (author)
University Medical Center Utrecht
Veldink, Jan H (author)
University Medical Center Utrecht
Ferraiuolo, Laura (author)
University of Sheffield
Shaw, Pamela J (author)
University of Sheffield
Snyder, Michael P (author)
Stanford University
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 (creator_code:org_t)
 
Elsevier BV, 2022
2022
English.
In: Neuron. - : Elsevier BV. - 0896-6273. ; 110:6, s. 11-1008
Related links:
http://dx.doi.org/10... (free)
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association studies (GWASs) have discovered relatively few loci. We developed a machine learning approach called RefMap, which integrates functional genomics with GWAS summary statistics for gene discovery. With transcriptomic and epigenetic profiling of motor neurons derived from induced pluripotent stem cells (iPSCs), RefMap identified 690 ALS-associated genes that represent a 5-fold increase in recovered heritability. Extensive conservation, transcriptome, network, and rare variant analyses demonstrated the functional significance of candidate genes in healthy and diseased motor neurons and brain tissues. Genetic convergence between common and rare variation highlighted KANK1 as a new ALS gene. Reproducing KANK1 patient mutations in human neurons led to neurotoxicity and demonstrated that TDP-43 mislocalization, a hallmark pathology of ALS, is downstream of axonal dysfunction. RefMap can be readily applied to other complex diseases.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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