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AuthorLeal, Thiago P.
AuthorCosta, Maria Fernanda Furtado Lima
AuthorDiversos autores
Access date2023-08-31T12:58:19Z
Available date2023-08-31T12:58:19Z
Document date2023
CitationLEAL, Thiago P. et al. X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease. Movement Disorders, 2023. doi.org/10.1002/mds.29508en_US
ISSN0885-3185en_US
URIhttps://www.arca.fiocruz.br/handle/icict/60276
DescriptionShilpa C. Rao The Parkinson’s Foundation. Miami, Florida, USA Jennifer N. French-Kwawu Institute for Genome Sciences. University of Maryland School of Medicine. Baltimore, Maryland, USA Mateus H. Gouveia Center for Research on Genomics and Global Health. National Human Genome Research Institute. National Institutes of Health. Bethesda,Maryland, USA Victor Borda Institute for Genome Sciences. University of Maryland School of Medicine. Baltimore, Maryland, USA Sara Bandres-Ciga Center for Alzheimer’s and Related Dementias. National Institutes of Health. Bethesda, Maryland, USA Miguel Inca-Martinez Lerner Research Institute. Genomic Medicine. Cleveland Clinic. Cleveland, Ohio, USA Emily A. Mason University of South Carolina School of Medicine. Columbia, South Carolina, USA Andrea R.V.R. Horimoto Division of Aging. Brigham and Women’s Hospital, Boston. Massachusetts, USA Douglas P. Loesch Institute for Genome Sciences. University of Maryland School of Medicine. Baltimore, Maryland, USA Elif I. Sarihan Lerner Research Institute. Genomic Medicine. Cleveland Clinic. Cleveland, Ohio, USA Mario R. Cornejo-Olivas Neurogenetics Working Group. Universidad Científica del Sur. Lima, Peru/Neurogenetics Research Center. Instituto Nacional de Ciencias Neurologicas. Lima, Peru Luis E. Torres Movement Disorders Unit. Instituto Nacional de Ciencias Neurologicas. Lima, Peru Pilar E. Mazzetti-Soler Neurogenetics Research Center. Instituto Nacional de Ciencias Neurologicas. Lima, Peru/Departamento de Medicina Humana. Universidad Nacional Mayor de San Marcos. Lima, Peru Carlos Cosentino Movement Disorders Unit. Instituto Nacional de Ciencias Neurologicas. Lima, Peru Elison H. Sarapura-Castro Neurogenetics Research Center. Instituto Nacional de Ciencias Neurologicas. Lima, Peru Andrea Rivera-Valdivia Neurogenetics Research Center. Instituto Nacional de Ciencias Neurologicas. Lima, Peru Angel C. Medina Universidad Nacional del Altiplano. Puno, Peru Elena M. Dieguez Neurology Institute. Universidad de la República. Montevideo, Uruguay Víctor E. Raggio Department of Genetics. Facultad de Medicina. Universidad de la República. Montevideo, Uruguay Andrés Lescano Neurology Institute. Universidad de la República. Montevideo, Uruguay Vitor Tumas Ribeirao Preto Medical School. Universidade de Sao Paulo. Ribeirao Preto, RS, Brazil Vanderci Borges Movement Disorders Unit. Department of Neurology and Neurosurgery. Universidade Federal de Sao Paulo. Sao Paulo, SP, Brazil Henrique B. Ferraz Movement Disorders Unit. Department of Neurology and Neurosurgery. Universidade Federal de Sao Paulo. Sao Paulo, SP, Brazil Carlos R. Rieder Departamento de Neurologia. Universidade Federal de Ciências da Saúde de Porto Alegre. Porto Alegre, RS, Brazil Artur Schumacher Schuh Serviço de Neurologia. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brazil/Departamento de Farm Fundaçao cologia. Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brazil Bruno L. Santos-Lobato Instituto de Ciências da Saúde. Universidade Federal do Para. Belém, PA, Brazil Carlos Velez-Pardo Neuroscience Research Group. Medical Research Institute. Faculty of Medicine. Universidad de Antioquia. Medellín, Colombia Marlene Jimenez-Del-Rio Neuroscience Research Group. Medical Research Institute. Faculty of Medicine. Universidad de Antioquia. Medellín, Colombia Francisco Lopera Neuroscience Research Group. Medical Research Institute. Faculty of Medicine. Universidad de Antioquia. Medellín, Colombia Sonia Moreno Neuroscience Research Group. Medical Research Institute. Faculty of Medicine. Universidad de Antioquia. Medellín, Colombia Pedro Chana-Cuevas CETRAM. Facultad de Ciencias Médicas. Universidad de Santiago de Chile. Santiago, Chile William Fernandez Neuroscience and Cell Death Research Groups. Medical School and Genetic Institute. Universidad Nacional de Colombia. Bogota, Colombia Gonzalo Arboleda Neuroscience and Cell Death Research Groups. Medical School and Genetic Institute. Universidad Nacional de Colombia. Bogota, Colombia Humberto Arboleda Neuroscience and Cell Death Research Groups. Medical School and Genetic Institute. Universidad Nacional de Colombia. Bogota, Colombia Carlos E. Arboleda Bustos Neuroscience and Cell Death Research Groups. Medical School and Genetic Institute. Universidad Nacional de Colombia. Bogota, Colombia Dora Yearout Veterans Affairs Puget Sound Health Care System. Seattle, Washington, USA/Department of Neurology. University of Washington. Seattle, Washington, USA Eduardo Tarazona-Santos Department of Genetics. Ecology and Evolution. Institute of Biological Sciences. Universidade Federal de Minas Gerais. Belo Horizonte, MG, Brazil Cyrus P. Zabetian Veterans Affairs Puget Sound Health Care System. Seattle, Washington, USA/Department of Neurology. University of Washington. Seattle, Washington, USA International Parkinson Disease Genomics Consortium (IPDGC), Timothy A. Thornton Department of Biostatistics. University of Washington. Seattle, Washington, USA Timothy D. O’Connor Institute for Genome Sciences. University of Maryland School of Medicine. Baltimore, Maryland, USA/Program in Health Equity and Population Health. University of Maryland School of Medicine. Baltimore, Maryland, USA/Program in Personalized and Genomic Medicine. University of Maryland School of Medicine. Baltimore, Maryland, USA/Department of Medicine. University of Maryland School of Medicine. Baltimore, Maryland, USA Ignacio F. Mata Lerner Research Institute. Genomic Medicine. Cleveland Clinic. Cleveland, Ohio, USA Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD)en_US
Languageengen_US
PublisherWiley Periodicalsen_US
Rightsrestricted accessen_US
TitleX-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Diseaseen_US
TypePreprinten_US
AbstractBackground:Sex differences inParkinson’s disease (PD) risk are well-known. How-ever, the role of sex chromosomes in the developmentand progression of PD is still unclear.Objective:The objective of this study was to perform thefirst X-chromosome–wide association study for PD risk ina Latin American cohort.Methods:We used data from three admixed cohorts:(1) Latin American Research consortium on the Genetics ofParkinson’s Disease (n=1504) as discover cohort, and(2) Latino cohort from International Parkinson DiseaseGenomics Consortium (n=155)and(3)BambuiAgingcohort (n=1442) as replication cohorts. We also devel-oped an X-chromosome framework specifically designedfor admixed populations.Results:We identified eight linkage disequilibrium regionsassociated with PD. We replicated one of these regions (topvariant rs525496; discovery odds ratio [95% confidenceinterval]: 0.60 [0.478–0.77],P=3.1310 5replicationodds ratio: 0.60 [0.37–0.98],P=0.04). rs5525496 is associ-ated with multiple expression quantitative trait loci in brainand non-brain tissues, includingRAB9B,H2BFM,TSMB15B,andGLRA4, but colocalization analysis suggeststhat rs5525496 may not mediate risk by expression of thesegenes. We also replicated a previous X-chromosome–wideassociation studyfinding (rs28602900), showing that thisvariant is associated with PD innon-European populations.Conclusions:Our results reinforce the importance ofincluding X-chromosome and diverse populations ingenetic studies. © 2023 The Authors.Movement Disor-derspublished by LLC on behalf ofInternational Parkinson and Movement Disorder Society.en_US
AffilliationLerner Research Institute. Genomic Medicine. Cleveland Clinic. Cleveland, Ohio, USAen_US
AffilliationRené Rachou Institute. Oswaldo Cruz Foundation. Belo Horizonte, MG, Brazilen_US
AffilliationEm notasen_US
Subjectadmixed populationsen_US
Subjecthipanic/latino;Parkinson’s diseaseen_US
Subjectunderrepresented populationsen_US
Subjectx-chromosome wide association studyen_US
Embargo date2099-12-31


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