{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Iwaki H"],"funding":["Intramural NIH HHS","Medical Research Council","Rosetrees"],"pagination":["774-780"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8975556"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["35(5)"],"pubmed_abstract":["<h4>Background</h4>Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified.<h4>Objectives</h4>To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with penetrance of PD among p.G2019S mutation carriers.<h4>Methods</h4>We included p.G2019S heterozygote carriers with European ancestry in three genetic cohorts in which the mutation carriers with and without PD were selectively recruited. We also included the carriers from two data sets: one from a case-control setting without selection of mutation carriers and the other from a population sampling. Associations between polygenic risk "],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score."],"pmcid":["PMC8975556"],"funding_grant_id":["MR/T04604X/1","MR/L023784/2","G0801418","1499398","G0801418B","Z01 AG000949","M701","UKDRI-3003","MR/L010305/1","MR/P005748/1","Z99 AG999999","1947196"],"pubmed_authors":["Escamilla-Sevilla F","Tolosa E","Trabzuni D","Williams N","Yarza JAB","Bernal-Bernal I","van Hilten JJ","Keuren-Jensen KV","Gonzalez MM","Gasser T","Guerreiro R","Aitkulova A","Kinghorn KJ","Wood NW","Aguilar M","Carrillo F","Chelban V","Ruiz-Martinez J","Cookson MR","Iwaki H","Faghri F","Ezquerra M","Holmans P","Tejera-Parrado C","Perinan-Tocino T","Macias D","Krohn L","Vela L","Makarious MB","Toft M","Compta Y","Corvol JC","Clarimon J","Billingsley K","Morris HR","Nalls MA","Botia JA","Robak L","Martinez-Castrillo JC","Vargas-Gonzalez L","Reed X","Pagola AG","Akhmetzhanov V","Fernandez-Santiago R","Zimprich A","Koks S","Bubb V","Bras J","Boungiorno MT","Kaishybayeva G","Shashkin C","Hassin-Baer S","Garcia-Ruiz P","Tabernero C","Ruz C","Gibbs JR","Fernandez M","Karimova A","Noyce AJ","Kaiyrzhanov CR","Okubadejo NU","Taba P","Rezola EM","Labrador-Espinosa MA","Simon-Sanchez J","Feliz C","Marin J","Torres IM","Diez-Fairen M","Quinn J","Marinus J","Minguez A","Clarke C","Ojo OO","Mendez-Del-Barrio C","Siitonen A","Leonard HL","Scholz SW","Pihlstrom L","Hernandez DG","Heredia MJG","Mir P","Kaiyrzhanov R","Craig DW","Raphael Gibbs J","Lopez-Sendon JL","Camara A","Rouleau GA","Valldeoriola F","Rizig M","Foltynie T","Lubbe S","Adarmes-Gomez AD","Barrero FJ","Buiza-Rueda D","Houlden H","Tan M","Brice A","Shulman JM","Heutink P","Lewis P","Tienari P","Gomez-Garre P","Sharma M","Martinez M","Mok KY","Marti MJ","Garcia C","Jesus S","R'Bibo L","Cerdan D","Hoenicka J","Tartari JP","Duran R","Majamaa K","Escott-Price V","Infante J","Hardy J","Zharmukhanov Z","Ryten M","Lungu C","Lesage S","Blauwendraat C","Guelfi S","Mencacci NE","Alcalay RN","de Munain Arregui AL","Plun-Favreau H","Kulisevsky J","Morrison KE","Finkbeiner S","Rodriguez AS","Suarez-Sanmartin E","Brockmann K","Pagonabarraga J","Schreglmann S","Sadykova D","Narendra D","Alvarez V","Manzoni C","Middlehurst B","Munoz E","Alvarez I","Singleton AB","Vives F","Blazquez M","Lovering R","Gonzalez-Aramburu I","Bandres-Ciga S","Pastor P","International Parkinson's Disease Genomics Consortium (IPDGC)","Danjou F","Dols-Icardo O","Errazquin FP","Rizzu P","Gan-Or Z","Kia DA","Zholdybayeva E","Duarte J","Schulte C","Jimenez-Escrig A","Carrion-Claro M","Sierra M","Bonilla-Toribio M","Mata M","Zharkinbekova N"],"additional_accession":[]},"is_claimable":false,"name":"Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.","description":"<h4>Background</h4>Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified.<h4>Objectives</h4>To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with penetrance of PD among p.G2019S mutation carriers.<h4>Methods</h4>We included p.G2019S heterozygote carriers with European ancestry in three genetic cohorts in which the mutation carriers with and without PD were selectively recruited. We also included the carriers from two data sets: one from a case-control setting without selection of mutation carriers and the other from a population sampling. Associations between polygenic risk ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 May","modification":"2026-05-31T07:12:00.685Z","creation":"2025-04-04T07:57:20.307Z"},"accession":"S-EPMC8975556","cross_references":{"pubmed":["31958187"],"doi":["10.1002/mds.27974"]}}