Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases
Version 2 2023-06-12, 07:23Version 2 2023-06-12, 07:23
Version 1 2023-06-09, 14:15Version 1 2023-06-09, 14:15
journal contribution
posted on 2023-06-12, 07:23authored byJason 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?