Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/55451
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dc.contributor.authorBandres-Ciga, Sara
dc.contributor.authorAhmed, Sarah
dc.contributor.authorSabir, Marya S
dc.contributor.authorBlauwendraat, Cornelis
dc.contributor.authorAdarmes-Gómez, Astrid D
dc.contributor.authorBernal-Bernal, Inmaculada
dc.contributor.authorBonilla-Toribio, Marta
dc.contributor.authorBuiza-Rueda, Dolores
dc.contributor.authorCarrillo, Fátima
dc.contributor.authorCarrión-Claro, Mario
dc.contributor.authorGómez-Garre, Pilar
dc.contributor.authorJesús, Silvia
dc.contributor.authorLabrador-Espinosa, Miguel A
dc.contributor.authorMacias, Daniel
dc.contributor.authorMéndez-Del-Barrio, Carlota
dc.contributor.authorPeriñán-Tocino, Teresa
dc.contributor.authorTejera-Parrado, Cristina
dc.contributor.authorVargas-González, Laura
dc.contributor.authorDiez-Fairen, Monica
dc.contributor.authorAlvarez, Ignacio
dc.contributor.authorTartari, Juan Pablo
dc.contributor.authorBuongiorno, Mariateresa
dc.contributor.authorAguilar, Miquel
dc.contributor.authorGorostidi, Ana
dc.contributor.authorBergareche, Jesús Alberto
dc.contributor.authorMondragon, Elisabet
dc.contributor.authorVinagre-Aragon, Ana
dc.contributor.authorCroitoru, Ioana
dc.contributor.authorRuiz-Martínez, Javier
dc.contributor.authorDols-Icardo, Oriol
dc.contributor.authorKulisevsky, Jaime
dc.contributor.authorMarín-Lahoz, Juan
dc.contributor.authorPagonabarraga, Javier
dc.contributor.authorPascual-Sedano, Berta
dc.contributor.authorEzquerra, Mario
dc.contributor.authorCámara, Ana
dc.contributor.authorCompta, Yaroslau
dc.contributor.authorFernández, Manel
dc.contributor.authorFernández-Santiago, Rubén
dc.contributor.authorMuñoz, Esteban
dc.contributor.authorTolosa, Eduard
dc.contributor.authorValldeoriola, Francesc
dc.contributor.authorGonzalez-Aramburu, Isabel
dc.contributor.authorSanchez Rodriguez, Antonio
dc.contributor.authorSierra, María
dc.contributor.authorMenéndez-González, Manuel
dc.contributor.authorBlazquez, Marta
dc.contributor.authorGarcia, Ciara
dc.contributor.authorSuarez-San Martin, Esther
dc.contributor.authorGarcía-Ruiz, Pedro
dc.contributor.authorMartínez-Castrillo, Juan Carlos
dc.contributor.authorVela-Desojo, Lydia
dc.contributor.authorRuz, Clara
dc.contributor.authorBarrero, Francisco Javier
dc.contributor.authorEscamilla-Sevilla, Francisco
dc.contributor.authorMínguez-Castellanos, Adolfo
dc.contributor.authorCerdan, Debora
dc.contributor.authorTabernero, Cesar
dc.contributor.authorGomez Heredia, Maria Jose
dc.contributor.authorPerez Errazquin, Francisco
dc.contributor.authorRomero-Acebal, Manolo
dc.contributor.authorFeliz, Cici
dc.contributor.authorLopez-Sendon, Jose Luis
dc.contributor.authorMata, Marina
dc.contributor.authorMartínez Torres, Irene
dc.contributor.authorKim, Jonggeol Jeffrey
dc.contributor.authorDalgard, Clifton L
dc.contributor.authorAmerican Genome Center
dc.contributor.authorBrooks, Janet
dc.contributor.authorSaez-Atienzar, Sara
dc.contributor.authorGibbs, J Raphael
dc.contributor.authorJorda, Rafael
dc.contributor.authorBotia, Juan A
dc.contributor.authorBonet-Ponce, Luis
dc.contributor.authorMorrison, Karen E
dc.contributor.authorClarke, Carl
dc.contributor.authorTan, Manuela
dc.contributor.authorMorris, Huw
dc.contributor.authorEdsall, Connor
dc.contributor.authorHernandez, Dena
dc.contributor.authorSimon-Sanchez, Javier
dc.contributor.authorNalls, Mike A
dc.contributor.authorScholz, Sonja W
dc.contributor.authorJimenez-Escrig, Adriano
dc.contributor.authorDuarte, Jacinto
dc.contributor.authorVives, Francisco
dc.contributor.authorDuran, Raquel
dc.contributor.authorHoenicka, Janet
dc.contributor.authorAlvarez, Victoria
dc.contributor.authorInfante, Jon
dc.contributor.authorMarti, Maria José
dc.contributor.authorClarimón, Jordi
dc.contributor.authorLópez de Munain, Adolfo
dc.contributor.authorPastor, Pau
dc.contributor.authorMir, Pablo
dc.contributor.authorSingleton, Andrew
dc.contributor.authorInternational Parkinson Disease Genomics Consortium
dc.date.accessioned2022-10-04T07:15:41Z-
dc.date.available2022-10-04T07:15:41Z-
dc.date.issued2019-10-29
dc.identifier.citationMov Disord.2019;(34)12:1851-1863
dc.identifier.urihttps://hdl.handle.net/20.500.12530/55451-
dc.description.abstractThe 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. To perform the largest PD genome-wide association study restricted to a single country. 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. We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society.
dc.language.isoen
dc.subjectParkinson's disease
dc.subjectSpanish population
dc.subjectage at onset
dc.subjectpolygenic risk score
dc.subjectrisk haplotype
dc.subject.meshAdult
dc.subject.meshAge of Onset
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshCase-Control Studies
dc.subject.meshChromosome Mapping
dc.subject.meshCost of Illness
dc.subject.meshDNA Methylation
dc.subject.meshFemale
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenome-Wide Association Study
dc.subject.meshGenotype
dc.subject.meshHaplotypes
dc.subject.meshHumans
dc.subject.meshMachine Learning
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMultifactorial Inheritance
dc.subject.meshParkinson Disease
dc.subject.meshSpain
dc.subject.meshUbiquitin-Protein Ligases
dc.titleThe Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
dc.typeArtículo
dc.identifier.pubmedID31660654
dc.format.volume34
dc.format.page1851-1863
dc.identifier.e-issn1531-8257
dc.identifier.journalMovement disorders : official journal of the Movement Disorder Society
dc.identifier.journalabbreviationMov Disord
dc.identifier.doi10.1002/mds.27864
dc.format.number12
dc.identifier.pmcPMC8393828
dc.pubmedtypeJournal Article
dc.pubmedtypeMulticenter Study
dc.pubmedtypeResearch Support, N.I.H., Extramural
dc.pubmedtypeResearch Support, U.S. Gov't, Non-P.H.S.
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393828/pdf
Appears in Collections:Fundaciones e Institutos de Investigación > FIIB H. U. Infanta Sofía y H. U. Henares > Artículos

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