Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw Morris, Rohan de Silva, John F Crary, Alison M Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Progressive supranuclear palsy (PSP) is a neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. We performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), small insertions/deletions (indels), and structural variants (SVs) in a cohort of 1,718 individuals with PSP and 2,944 control subjects. Analysis of common SNVs and indels confirmed known genetic loci at MAPT , MOBP , S TX6 , SLCO1A2 , DUSP10 , and SP1 , and also uncovered novel signals in APOE , FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1 ...
December 30, 2023: medRxiv