Article
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Nature communications - 20 Jan 2023
Megat Salim, Mora Natalia, Sanogo Jason, Roman Olga, Catanese Alberto, Alami Najwa Ouali, Freischmidt Axel, Mingaj Xhuljana, De Calbiac Hortense, Muratet François, Dirrig-Grosch Sylvie, Dieterle Stéphane, Van Bakel Nick, Müller Kathrin, Sieverding Kirsten, Weishaupt Jochen, Andersen Peter Munch, Weber Markus, Neuwirth Christoph, Margelisch Markus, Sommacal Andreas, Van Eijk Kristel R, Veldink Jan H, Lautrette Géraldine, Couratier Philippe, Camuzat Agnès, Le Ber Isabelle, Grassano Maurizio, Chio Adriano, Boeckers Tobias, Ludolph Albert C, Roselli Francesco, Yilmazer-Hanke Deniz, Millecamps Stéphanie, Kabashi Edor, Storkebaum Erik, Sellier Chantal, Dupuis Luc
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50....
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