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Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases
journal contributionposted on 2023-06-12, 07:23 authored by Jason A Chen, Zhongbo Chen, Hyejung Won, Alden Y Huang, Jennifer K Lowe, Kevin Wojita, Jennifer S Yokoyama, Gilbert Bensimon, Nigel LeighNigel Leigh, Christine Payan, Aleksey Shatunov, Ashley R Jones, Cathryn M Lewis, Panagiotis Deloukas, Philippe Amouyel, Christophe Tzourio, Jean-Francois Dartigues, Albert Ludolph, Adam L Boxer, Jeff M Bronstein, Ammar Al-Chalabi, Daniel H Geschwind, Giovanni Coppola
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. Methods We conducted a joint analysis of 5,523,934 imputed SNPs in two newly-genotyped progressive supranuclear palsy cohorts, primarily derived from two clinical trials (Allon davunetide and NNIPPS riluzole trials in PSP) and a previously published genome-wide association study (GWAS), in total comprising 1646 cases and 10,662 controls of European ancestry. Results We identified 5 associated loci at a genome-wide significance threshold P?
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- BSMS Neuroscience Publications
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