ArticleMovement disorders : official journal of the Movement Disorder Society2019
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
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Article in Movement disorders : official journal of the Movement Disorder Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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45 citing papers in PubMed.
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- A whole-transcriptome analysis of differentially expressed genes, transcripts, and transcript usage in blood samples from Parkinson's disease patients.Experimental biology and medicine (Maywood, N.J.) · 2026Article
- Cortical volumetry and longitudinal cognitive changes in Parkinson's disease: insights from the COPPADIS cohort.Brain imaging and behavior · 2025Article
- Neuroprotective Effects of Low-Dose Graphenic Materials on SN4741 Embryonic Stem Cells Against ER Stress and MPTP-Induced Oxidative Stress.International journal of molecular sciences · 2025Article
- The quest for Parkinson's disease biomarkers: traditional and emerging multi-omics approaches.Molecular biology reports · 2025Review
- Genome-wide association analyses reveal susceptibility variants linked to Parkinson's disease in the South African population using inferred global and local ancestry.medRxiv : the preprint server for health sciences · 2025Article
- Sex differences in the diagnosis latency of Parkinson's disease in Latin America.Parkinsonism & related disorders · 2025Article
- Genetic Insights into Brain Morphology: a Genome-Wide Association Study of Cortical Thickness and TNeuroinformatics · 2025Article
- The Exon-Based Transcriptomic Analysis of Parkinson's Disease.Biomolecules · 2025Article
- Glutathione S-transferase polymorphisms (GSTM1/GSTT1) outcomes in clinical profile and treatment responsiveness among Tunisian cohort of Parkinson's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2025Article
- Understanding Parkinson disease in Spain: Genetic and clinical insights.European journal of neurology · 2025Article
- Factors Affecting Treatment Persistence in Japanese Patients with Psoriasis Prescribed Biologics: A Real-World Study Using an Insurance Claim Database.Dermatology and therapy · 2024Article
- Chemical Characterization and Beneficial Effects of Walnut Oil on aMolecules (Basel, Switzerland) · 2024Article
- A Genome-Wide Interaction Study of Erythrocyte ω-3 Polyunsaturated Fatty Acid Species and Memory in the Framingham Heart Study Offspring Cohort.The Journal of nutrition · 2024Article
- Transcriptomic analysis reveals associations of blood-based A-to-I editing with Parkinson's disease.Journal of neurology · 2024Article
- Risk factors associated with age at onset of Parkinson's disease in the UK Biobank.NPJ Parkinson's disease · 2024Article
- Prediction of Parkinson's Disease Using Machine Learning Methods.Biomolecules · 2023Article
- Cumulative Genetic Score andNeurology. Genetics · 2023Article
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Authors and funding
97 authors.
Sara Bandres-CigaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Sarah AhmedLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Marya S SabirLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Astrid D Adarmes-GómezHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Inmaculada Bernal-BernalHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Marta Bonilla-ToribioHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Dolores Buiza-RuedaHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Fátima CarrilloHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Mario Carrión-ClaroHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Pilar Gómez-GarreHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Silvia JesúsHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Miguel A Labrador-EspinosaHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Daniel MaciasHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Carlota Méndez-Del-BarrioHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Teresa Periñán-TocinoHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Cristina Tejera-ParradoHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Laura Vargas-GonzálezHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Monica Diez-FairenFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Ignacio AlvarezFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Juan Pablo TartariFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Mariateresa BuongiornoFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Miquel AguilarFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Ana GorostidiNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Jesús Alberto BergarecheNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Elisabet MondragonNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Ana Vinagre-AragonUnidad de Trastornos de Movimiento, Departamento de Neurologia, Hospital Universitario de Donostia, San Sebastián, Spain.
Ioana CroitoruNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Javier Ruiz-MartínezNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Oriol Dols-IcardoCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Jaime KulisevskyCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Juan Marín-LahozCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Javier PagonabarragaCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Berta Pascual-SedanoCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Mario EzquerraCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Ana CámaraCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Yaroslau ComptaCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Manel FernándezCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Rubén Fernández-SantiagoCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Esteban MuñozCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Eduard TolosaCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Francesc ValldeoriolaCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Isabel Gonzalez-AramburuCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Antonio Sanchez RodriguezCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
María SierraCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Manuel Menéndez-GonzálezServicio de Neurología, Hospital Universitario Central de Asturias, Asturias, Spain.
Marta BlazquezServicio de Neurología, Hospital Universitario Central de Asturias, Asturias, Spain.
Ciara GarciaServicio de Neurología, Hospital Universitario Central de Asturias, Asturias, Spain.
Esther Suarez-San MartinServicio de Neurología, Hospital Universitario Central de Asturias, Asturias, Spain.
Pedro García-RuizDepartamento de Neurologia, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain.
Juan Carlos Martínez-CastrilloDepartamento de Neurologia, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Lydia Vela-DesojoServicio de Neurologia, Hospital Universitario Fundación Alcorcón, Madrid, Spain.ORCID 0000-0001-6663-395X
Clara RuzInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Francisco Javier BarreroInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Francisco Escamilla-SevillaInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Adolfo Mínguez-CastellanosInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Debora CerdanServicio de Neurología, Hospital General de Segovia, Segovia, Spain.
Cesar TaberneroServicio de Neurología, Hospital General de Segovia, Segovia, Spain.
Maria Jose Gomez HerediaServicio de Neurología, Hospital Universitario Virgen de la Victoria, Malaga, Spain.
Francisco Perez ErrazquinServicio de Neurología, Hospital Universitario Virgen de la Victoria, Malaga, Spain.
Manolo Romero-AcebalServicio de Neurología, Hospital Universitario Virgen de la Victoria, Malaga, Spain.
Cici FelizDepartamento de Neurologia, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain.
Jose Luis Lopez-SendonDepartamento de Neurologia, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Marina MataDepartamento de Neurologia, Hospital Universitario Infanta Sofía, Madrid, Spain.
Irene Martínez TorresDepartamento de Neurologia, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Jonggeol Jeffrey KimLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Clifton L DalgardDepartment of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
American Genome Center
Janet BrooksLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Sara Saez-AtienzarNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
J Raphael GibbsComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Rafael JordaDepartamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, Spain.
Juan A BotiaDepartamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, Spain.
Luis Bonet-PonceLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Karen E MorrisonDepartment of Neurology, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Carl ClarkeUniversity of Birmingham, Birmingham, United Kingdom.
Manuela TanDepartment of Clinical Neuroscience, University College London, London, United Kingdom.
Huw MorrisDepartment of Clinical Neuroscience, University College London, London, United Kingdom.
Connor EdsallLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Dena HernandezLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Javier Simon-SanchezDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Sonja W ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-6623-0429
Adriano Jimenez-EscrigDepartamento de Neurologia, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.ORCID 0000-0002-4927-1886
Jacinto DuarteServicio de Neurología, Hospital General de Segovia, Segovia, Spain.
Francisco VivesInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Raquel DuranInstituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
Janet HoenickaLaboratorio de Neurogenética y Medicina Molecular, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.ORCID 0000-0002-6790-6988
Victoria AlvarezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), Asturias, Spain.
Jon InfanteCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Maria José MartiCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Jordi ClarimónCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
Adolfo López de MunainNeurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain.
Pau PastorFundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain.
Pablo MirHospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain.
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
International Parkinson Disease Genomics Consortium
Funding
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4MGenome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MProspective studies on Parkinson's diseaseZ01ES101986 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI CHEN, HONGLEI · 2006 to 2008
$1.2MIntramural NIH HHS Z01 AG000949Intramural NIH HHS Z01 ES101986Intramural NIH HHS ZIA NS003154Medical Research Council G0701075Medical Research Council G0901254Medical Research Council MR/K01417X/1Medical Research Council MR/L501542/1Medical Research Council MR/N026004/1Parkinson's UK G-0907U.S. Department of Defense W81XWH-09-2-0128
Abstract
backgroundThe 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.
objectivesTo perform the largest PD genome-wide association study restricted to a single country.
methodsWe 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.
resultsWe 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.
conclusionsOur 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.
Indexed as
AdultAgedAged, 80 and overAge of OnsetCase-Control StudiesChromosome MappingCost of IllnessDNA MethylationFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHumansMachine LearningMaleparkin proteinUbiquitin-Protein Ligasesage at onsetParkinson's diseasepolygenic risk scorerisk haplotypeSpanish population
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