{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bandres-Ciga S"],"funding":["Intramural NIH HHS","Barts Charity","Medical Research Council","U.S. Department of Defense","Rosetrees","National Institute on Aging","Parkinson's UK"],"pagination":["1851-1863"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8393828"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["34(12)"],"pubmed_abstract":["<h4>Background</h4>The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases.<h4>Objectives</h4>To perform the largest PD genome-wide association study restricted to a single country.<h4>Methods</h4>We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses.<h4>Results</h4>We identified a novel population-specific genome-wide assoc"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight."],"pmcid":["PMC8393828"],"funding_grant_id":["Z01 AG000949","Z01‐AG000949‐02","MR/L501542/1","MR/K01417X/1","M701","M733","G0701075","W81XWH‐09‐2‐0128","G-0907","W81XWH-09-2-0128","MGU0364","MR/N026004/1","UKDRI-1009","Z01‐ES101986","ZIA NS003154","Z01 ES101986","1ZIA‐NS003154‐03","G0901254"],"pubmed_authors":["Escamilla-Sevilla F","Tolosa E","Trabzuni D","Williams N","Ahmed S","Bernal-Bernal I","Yarza JAB","van Hilten JJ","Keuren-Jensen KV","Gonzalez MM","Gasser T","Vinagre-Aragon A","Guerreiro R","Carrillo F","Aguilar M","Kinghorn KJ","Wood NW","Menendez-Gonzalez M","Chelban V","Bergareche JA","Suarez-San Martin E","Ruiz-Martinez J","Cookson MR","Adeleye A","Edsall C","Viollet C","Ezquerra M","Romero-Acebal M","Faghri F","Iwaki H","Singleton A","Gorostidi A","Holmans P","Dalgard CL","Tejera-Parrado C","Marin-Lahoz J","Perinan-Tocino T","Macias D","Minguez-Castellanos A","Sukumar G","Krohn L","Vela L","Martinez EM","Toft M","Compta Y","Vela-Desojo L","Clarimon J","Corvol JC","Billingsley K","de la Casa B","Bonet-Ponce L","Morris HR","Nalls MA","Botia JA","Pollard HB","Martinez-Castrillo JC","Robak L","Vargas-Gonzalez L","American Genome Center","Reed X","Pagola AG","Fernandez-Santiago R","Zimprich A","Koks S","Bras J","Boungiorno MT","Hassin-Baer S","International Parkinson Disease Genomics Consortium","Garcia-Ruiz P","Tabernero C","Ruz C","Fernandez M","Gibbs JR","Noyce AJ","Taba P","Alba C","Wilkerson MD","Rezola EM","Labrador-Espinosa MA","Simon-Sanchez J","Arregui ALM","Feliz C","Marin J","Torres IM","Diez-Fairen M","Marinus J","Minguez A","Buongiorno M","Clarke C","Mendez-Del-Barrio C","Leonard HL","Scholz SW","Soltis AR","Pihlstrom L","Gomez Heredia MJ","Mir P","Hernandez DG","Heredia MJG","Mondragon E","Kaiyrzhanov R","Craig DW","Lopez-Sendon JL","Camara A","Croitoru I","Rouleau GA","Valldeoriola F","Rizig M","Foltynie T","Lubbe S","Adarmes-Gomez AD","Barrero FJ","Hernandez D","Buiza-Rueda D","Houlden H","Lopez de Munain A","Martinez Torres I","Tan M","Kim JJ","Hupalo DN","Brice A","Shulman JM","Heutink P","Lewis P","Gomez-Garre P","Brooks J","Sharma M","Martinez M","Mok KY","Marti MJ","Garcia C","Jesus S","Sanchez Rodriguez A","R'Bibo L","Sabir MS","Cerdan D","Hoenicka J","Tartari JP","Duran R","Infante J","Escott-Price V","Hardy J","Ryten M","Lungu C","Lesage S","Blauwendraat C","Guelfi S","Mencacci NE","Alcalay RN","Kulisevsky J","Plun-Favreau H","Morrison KE","Finkbeiner S","Rodriguez AS","Suarez-Sanmartin E","Pagonabarraga J","Brockmann K","Schreglmann S","Morris H","Alvarez V","Manzoni C","Munoz E","Middlehurst B","Nicolas A","Alvarez I","Saez-Atienzar S","Vives F","Singleton AB","Blazquez M","Pascual-Sedano B","PhD JQ","Lovering R","Gonzalez-Aramburu I","Bandres-Ciga S","Pastor P","Danjou F","Dols-Icardo O","Errazquin FP","Perez Errazquin F","Jorda R","Bacikova D","Rizzu P","Gan-Or Z","Kia DA","Duarte J","Jimenez-Escrig A","Schulte C","Carrion-Claro M","Sierra M","Bonilla-Toribio M","Mata M"],"additional_accession":[]},"is_claimable":false,"name":"The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.","description":"<h4>Background</h4>The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases.<h4>Objectives</h4>To perform the largest PD genome-wide association study restricted to a single country.<h4>Methods</h4>We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses.<h4>Results</h4>We identified a novel population-specific genome-wide assoc","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Dec","modification":"2026-05-08T18:29:20.123Z","creation":"2022-02-11T09:54:42.31Z"},"accession":"S-EPMC8393828","cross_references":{"pubmed":["31660654"],"doi":["10.1002/mds.27864"]}}