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Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

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dc.contributor.author Sarihan, E.I.
dc.contributor.author Pérez Palma, E.
dc.contributor.author Niestroj, L.M.
dc.contributor.author Loesch, D.
dc.contributor.author Inca Martinez, M.
dc.contributor.author Horimoto, A.R.V.R.
dc.contributor.author Cornejo Olivas, M.
dc.contributor.author Torres, L.
dc.contributor.author Mazzetti, P.
dc.contributor.author Cosentino, C.
dc.contributor.author Sarapura Castro, E.
dc.contributor.author Rivera Valdivia, A.
dc.contributor.author Dieguez, E.
dc.contributor.author Raggio, V.
dc.contributor.author Lescano, Andrés
dc.contributor.author Tumas, V.
dc.contributor.author Borges, V.
dc.contributor.author Ferraz, H.B.
dc.contributor.author Rieder, C.R.
dc.contributor.author Schumacher Schuh, A.F.
dc.contributor.author Santos Lobato, B.L.
dc.contributor.author Velez Pardo, C.
dc.contributor.author Jimenez Del-Rio, M.
dc.contributor.author Lopera, F.
dc.contributor.author Moreno, S.
dc.contributor.author Chana Cuevas, P.
dc.contributor.author Fernandez, W.
dc.contributor.author Arboleda, G.
dc.contributor.author Arboleda, H.
dc.contributor.author Arboleda Bustos, C.E.
dc.contributor.author Yearout, D.
dc.contributor.author Zabetian, C.P.
dc.contributor.author Thornton, T.A.
dc.contributor.author O'Connor, T.D.
dc.contributor.author Lal, D.
dc.contributor.author Mata, I.F.
dc.contributor.author Micheli, F.
dc.contributor.author Gatto, E.
dc.contributor.author Tumas, V.
dc.contributor.author Borges, V.
dc.contributor.author Ferraz, H.B.
dc.contributor.author Rieder, C.R.
dc.contributor.author Shumacher Schuh, A.
dc.contributor.author Santos Lobato, B.L.
dc.contributor.author Chaná, P.
dc.contributor.author Velez Pardo, C.
dc.contributor.author Jimenez-Del-Rio, M.
dc.contributor.author Lopera, F.
dc.contributor.author Arboleda, G.
dc.contributor.author Arboleda, H.
dc.contributor.author Orozco, J.L.
dc.contributor.author Moreno, S.
dc.contributor.author Fernandez, W.
dc.contributor.author Arboleda Bustos, C.E.
dc.contributor.author Fornaguera, J.
dc.contributor.author Guillén, A.H.
dc.contributor.author Acosta, G.T.
dc.contributor.author Chang Castello, J.
dc.contributor.author Muñoz, B.A.
dc.contributor.author Medina, A.
dc.contributor.author Ferrera, A.
dc.contributor.author Martinez Ramirez, D.
dc.contributor.author Rodriguez, M.
dc.contributor.author Cornejo Olivas, M.
dc.contributor.author Mazzetti, P.
dc.contributor.author Sarapura, H.
dc.contributor.author Rivera, A.
dc.contributor.author Torres, L.
dc.contributor.author Cosentino, C.
dc.contributor.author Medina, A.
dc.contributor.author Viñuela, A.
dc.contributor.author Dieguez, E.
dc.contributor.author Raggio, V.
dc.contributor.author Lescano, A.
dc.contributor.author Amorin, I.
dc.contributor.author Latin American Research Consortium on the Genetics of Parkinson's Disease
dc.date.accessioned 2021-04-13T20:51:01Z
dc.date.available 2021-04-13T20:51:01Z
dc.date.issued 2020
dc.identifier.uri https://hdl.handle.net/20.500.12866/9173
dc.description.abstract Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. Methods: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results: Genome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69–10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10−7). Conclusions: We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society. en_US
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartofseries Movement Disorders
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject genetics en_US
dc.subject Latin America en_US
dc.subject copy number variants en_US
dc.subject Parkinson's disease en_US
dc.subject *Latin America en_US
dc.subject *genetics en_US
dc.subject *Parkinson's disease en_US
dc.subject *copy number variants en_US
dc.title Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1002/mds.28353
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.25
dc.relation.issn 1531-8257


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