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

Sarapura Castro, E.; Lescano, Andrés; Micheli, F.; Medina, A.; Cornejo Olivas, M.; Niestroj, L.M.; Ferraz, H.B.; Rodriguez, M.; Latin American Research Consortium on the Genetics of Parkinson's Disease; Inca Martinez, M.; Lal, D.; Thornton, T.A.; Torres, L.; Yearout, D.; Mazzetti, P.; Mata, I.F.; Rieder, C.R.; Muñoz, B.A.; Arboleda Bustos, C.E.; Ferrera, A.; Chang Castello, J.; Velez Pardo, C.; Orozco, J.L.; Chana Cuevas, P.; Raggio, V.; Loesch, D.; Fernandez, W.; Arboleda, G.; Zabetian, C.P.; Moreno, S.; Santos Lobato, B.L.; Guillén, A.H.; Lopera, F.; Jimenez-Del-Rio, M.; Sarapura, H.; Tumas, V.; Gatto, E.; O'Connor, T.D.; Acosta, G.T.; Lescano, A.; Chaná, P.; Amorin, I.; Shumacher Schuh, A.; Cosentino, C.; Arboleda, H.; Schumacher Schuh, A.F.; Fornaguera, J.; Martinez Ramirez, D.; Borges, V.; Jimenez Del-Rio, M.; Rivera, A.; Viñuela, A.; Pérez Palma, E.; Horimoto, A.R.V.R.; Sarihan, E.I.; Rivera Valdivia, A.; Dieguez, E.

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

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