SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

Background: Single nucleotide polymorphisms (SNPs) in the a-synuclein (SNCA) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease (PD). Yet potential combinatory or synergistic effects among sever...

Full description

Bibliographic Details

Authors:	Fernández-Santiago R.; Martín-Flores N.; Antonelli F.; Cerquera C.; Moreno V.; Bandres-Ciga S.; Manduchi E.; Tolosa E.; Singleton A.B.; Moore J.H.; Martí M.-J.; Ezquerra M.; Malagelada C.; Noyce A.J.; Kaiyrzhanov R.; Middlehurst B.; Kia D.A.; Tan M.; Houlden H.; Morris H.R.; Plun-Favreau H.; Holmans P.; Hardy J.; Trabzuni D.; Bras J.; Quinn J.; Mok K.Y.; Kinghorn K.J.; Billingsley K.; Wood N.W.; Lewis P.; Schreglmann S.; Guerreiro R.; Lovering R.; R’Bibo L.; Manzoni C.; Rizig M.; Ryten M.; Guelfi S.; Escott-Price V.; Chelban V.; Foltynie T.; Williams N.; Morrison K.E.; Clarke C.; Brice A.; Danjou F.; Lesage S.; Corvol J.-C.; Martinez M.; Schulte C.; Brockmann K.; Simon-Sanchez J.; Heutink P.; Rizzu P.; Sharma M.; Gasser T.; Nicolas A.; Cookson M.R.; Blauwendraat C.; Craig D.W.; Faghri F.; Gibbs J.R.; Hernandez D.G.; Van Keuren-Jensen K.; Shulman J.M.; Iwaki H.; Leonard H.L.; Nalls M.A.; Robak L.; Lubbe S.; Finkbeiner S.; Mencacci N.E.; Lungu C.; Scholz S.W.; Reed X.; Alcalay R.N.; Gan-Or Z.; Rouleau G.A.; Krohn L.; Van Hilten J.J.; Marinus J.; Adarmes-Gómez A.D.; Aguilar I.; Alvarez I.; Alvarez V.; Barrero F.J.; Bergareche Yarza J.A.; Bernal-Bernal I.; Blazquez M.; Bonilla-Toribio M.; Botía J.A.; Boungiorno M.T.; Buiza-Rueda D.; Cámara A.; Carrillo F.; Carrión-Claro M.; Cerdan D.; Clarimón J.; Compta Y.; De La Casa B.; Diez-Fairen M.; Dols-Icardo O.; Duarte J.; Duran R.; Escamilla-Sevilla F.; Feliz C.; Fernández M.; Garcia C.; García-Ruiz P.; Gómez-Garre P.; Gomez Heredia M.J.; Gonzalez-Aramburu I.; Pagola A.G.; Hoenicka J.; Infante J.; Jesús S.; Jimenez-Escrig A.; Kulisevsky J.; Labrador-Espinosa M.A.; Lopez-Sendon J.L.; De Munainarregui A.L.; Macias D.; Torres I.M.; Marín J.; Marti M.J.; Mar-Tínez-castrillo J.C.; Méndez-Del-barrio C.; González M.M.; Mata M.; Mínguez A.; Mir P.; Rezola E.M.; Muñoz E.; Pagonabarraga J.; Pascual-Sedano B.; Pastor P.; Errazquin F.P.; Periñán-Tocino T.; Ruiz-Martínez J.; Ruz C.; Rodriguez A.S.; Sierra M.; Suarez-Sanmartin E.; Tabernero C.; Tartari J.P.; Tejera-Parrado C.; Valldeoriola F.; Vargas-González L.; Vela L.; Vives F.; Zimprich A.; Pihlstrom L.; Toft M.; Koks S.; Taba P.; Hassin-Baer S.
Format:	Article
Status:	Published version
Publication date:	2019
Country:	España
Institution:	Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repository:	r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:	oai:iibsantpau.fundanetsuite.com:p10213
Online Access:	https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10213 https://europepmc.org/articles/pmc7322732
Access Level:	Open access
Keyword:	alpha synuclein glycogen synthase kinase 3beta mammalian target of rapamycin protein kinase LKB1 regulatory associated protein of mTOR MTOR protein, human SNCA protein, human target of rapamycin kinase adult Article brain function cohort analysis controlled study fchsd1 gene female gene gene locus human major clinical study male middle aged mTOR signaling multifactor dimensionality reduction neuromodulation onset age Parkinson disease priority journal rps6ka2 gene single nucleotide polymorphism aged chromosomal mapping epistasis genetic predisposition genetics genotype pathology risk assessment signal transduction very elderly Adult Age of Onset Aged Aged, 80 and over alpha-Synuclein Chromosome Mapping Cohort Studies Epistasis, Genetic Female Genetic Predisposition to Disease Genotype Humans Male Middle Aged Parkinson Disease Polymorphism, Single Nucleoti