Authors
Demis A Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H Reynolds, Juan Botía, Mina Ryten, Raffaele Ferrari, Patrick A Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas W Wood, Alastair J Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R Morris, Helene Plun-Favreau, Peter Holmans, Jose Bras, Kin Y Mok, Kerri J Kinghorn, Kimberley Billingsley, Patrick Lewis, Sebastian Schreglmann, Rita Guerreiro, Ruth Lovering, Lea R'Bibo, Mie Rizig, Valentina Escott-Price, Viorica Chelban, Thomas Foltynie, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean-Christophe Corvol, Maria Martinez, Claudia Schulte, Kathrin Brockmann, Javier Simón-Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark R Cookson, Sara Bandres-Ciga, Cornelis Blauwendraat, David W Craig, Faraz Faghri, J Raphael Gibbs, Dena G Hernandez, Kendall Van Keuren-Jensen, Joshua M Shulman, Hampton L Leonard, Mike A Nalls, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolo E Mencacci, Codrin Lungu, Andrew B Singleton, Sonja W Scholz, Xylena Reed, Roy N Alcalay, Ziv Gan-Or, Guy A Rouleau, Lynne Krohn, Jacobus J van Hilten, Johan Marinus, Astrid D Adarmes-Gómez, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Francisco Javier Barrero, Jesús A Bergareche Yarza, Inmaculada Bernal-Bernal, Marta Blazquez, Marta Bonilla-Toribio, Juan A Botía, María T Boungiorno, Dolores Buiza-Rueda, Ana Càmara, Fátima Carrillo, Mario Carrión-Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Monica Diez-Fairen, Oriol Dols-Icardo, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Manel Fernàndez, Rubén Fernàndez-Santiago, Ciara Garcia, Pedro García-Ruiz, Pilar Gómez-Garre, Maria J Gomez Heredia, Isabel Gonzalez-Aramburu, Ana G Pagola, Janet Hoenicka, Jon Infante, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A Labrador-Espinosa, Jose Luis Lopez-Sendon, Adolfo López de Munain Arregui, Daniel Macias, Irene Martínez Torres, Juan Marín, Maria Jose Marti, Juan Carlos Martínez-Castrillo, Carlota Mèndez-del-Barrio, Manuel Menéndez González, Marina Mata Adolfo Mínguez, Pablo Mir, Elisabet Mondragon Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Teresa Perińán-Tocino, Javier Ruiz-Martínez, Clara Ruz, Antonio Sanchez Rodriguez, María Sierra, Esther Suarez-Sanmartin, Cesar Tabernero, Juan Pablo Tartari, Cristina Tejera-Parrado, Eduard Tolosa, Francesc Valldeoriola, Laura Vargas-González, Lydia Vela, Francisco Vives, Alexander Zimprich, Lasse Pihlstrom, Mathias Toft, Sulev Koks, Pille Taba, Sharon Hassin-Baer, Michael Weale, Adaikalavan Ramasamy, Colin Smith
Publication date
2021/4/1
Journal
JAMA neurology
Volume
78
Issue
4
Pages
464-472
Publisher
American Medical Association
Description
Importance
Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD.
Objective
To investigate what genes and genomic processes underlie the risk of sporadic PD.
Design and Setting
This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were …
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Scholar articles
DA Kia, D Zhang, S Guelfi, C Manzoni, L Hubbard… - JAMA neurology, 2021