Article
Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2025
Wang Hui, Chang Timothy S, Dombroski Beth A, Cheng Po-Liang, Si Ya-Qin, Tucci Albert, Patil Vishakha, Valiente-Banuet Leopoldo, Li Chong, Farrell Kurt, Mclean Catriona, Molina-Porcel Laura, Rajput Alex, De Deyn Peter Paul, Le Bastard Nathalie, Gearing Marla, Donker Kaat Laura, Van Swieten John C, Dopper Elise, Ghetti Bernardino F, Newell Kathy L, Troakes Claire, de Yébenes Justo G, Rábano-Gutierrez Alberto, Meller Tina, Oertel Wolfgang H, Respondek Gesine, Stamelou Maria, Arzberger Thomas, Roeber Sigrun, Müller Ulrich, Hopfner Franziska, Pastor Pau, Brice Alexis, Durr Alexandra, Le Ber Isabelle, Beach Thomas G, Serrano Geidy E, Hazrati Lili-Naz, Litvan Irene, Rademakers Rosa, Ross Owen A, Galasko Douglas, Boxer Adam L, Miller Bruce L, Seeley Willian W, Van Deerlin Vivianna M, Lee Edward B, White Charles L, Morris Huw R, de Silva Rohan, Crary John F, Goate Alison M, Friedman Jeffrey S, Compta Yaroslau, Leung Yuk Yee, Coppola Giovanni, Naj Adam C, Wang Li-San, Dalgard Clifton, Dickson Dennis W, Höglinger Günter U, Tzeng Jung-Ying, Geschwind Daniel H, Schellenberg Gerard D, Lee Wan-Ping
Abstract excerpt
BACKGROUND: The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP). OBJECTIVE: To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP. METHODS: Utilizing whole genome sequencing data from 1684 PSP cases and 2392...
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