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Title: | Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry | Authors: | Cornejo-Olivas, Mario Torres, Luis Velit-Salazar, Mario R Inca-Martinez, Miguel Mazzetti, Pilar Cosentino, Carlos Micheli, Federico Perandones, Claudia Dieguez, Elena Raggio, Victor Tumas, Vitor Borges, Vanderci Ferraz, Henrique B Rieder, Carlos R M Shumacher-Schuh, Artur Velez-Pardo, Carlos Jimenez-Del-Rio, Marlene Lopera, Francisco Chang-Castello, Jorge Andreé-Munoz, Brennie Waldherr, Sarah Yearout, Dora Zabetian, Cyrus P Mata, Ignacio F |
Issue Date: | 2017 | Journal: | NPJ Parkinson's disease | Abstract: | Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson's disease, but this finding requires replication. We screened 1734 Parkinson's disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson's disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson's disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common. |
Description: | Fil. Cornejo-Olivas, Mario. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Consorcio de Capacitación en Investigación en Salud Global del Pacífico Norte, Bethesda, MD, EE. UU Fil. Torres, Luis. Unidad de Trastornos del Movimiento, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Universidad Nacional Mayor de San Marcos, Lima, Perú. Fil. Velit-Salazar, Mario R. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Universidad Peruana Cayetano Heredia, Lima, Perú. Fil. Inca-Martínez, Miguel. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Fil. Mazzetti, Pilar. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Universidad Nacional Mayor de San Marcos, Lima, Perú. Fil. Cosentino, Carlos. Unidad de Trastornos del Movimiento, Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Universidad Nacional Mayor de San Marcos, Lima, Perú. Fil. Micheli, Federico. Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina. Fil. Perandones, Claudia. Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina. Fil. Dieguez, Elena. Instituto de Neurología, Universidad de la República, Montevideo, Uruguay. Fil. Raggio, Victor. Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay. Fil. Tumas, Vitor. Facultad de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brasil. Fil. Borges, Vanderci. Unidad de Trastornos del Movimiento, Departamento de Neurología y Neurocirugía, Universidade Federal de São Paulo, São Paulo, SP Brasil. Fil. B. Ferraz, Henrique. Unidad de Trastornos del Movimiento, Departamento de Neurología y Neurocirugía, Universidade Federal de São Paulo, São Paulo, SP Brasil. Fil.RM Rieder,.Carlos. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil. Fil. Shumacher-Schuh, Artur. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil. Fil. Vélez-Pardo, Carlos. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia. Fil .Jiménez-Del-Rio, Marlene. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia. Fil. Lopera, Francisco. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia. Fil. Chang-Castello, Jorge. Departamento de Genética, Facultad de Medicina, Universidad de Guayaquil, Hospital Luis Vernaza, Guayaquil, Ecuador. Fil. Andreé-Muñoz, Brennie. Servicio de Neurología, Hospital Luis Vernaza, Guayaquil, Ecuador. Fil. Waldherr, Sarah. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU. Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU. Fil. Yearout, Dora. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU. Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU. Fil. P Zabetian, Cyrus. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU. Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU. Fil. F Mata, Ignacio. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU. Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU. |
URI: | http://sgc.anlis.gob.ar/handle/123456789/2420 | ISSN: | 2373-8057 | DOI: | 10.1038/s41531-017-0020-6 |
Appears in Collections: | Publicaciones UEFES |
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s41531-017-0020-6 30-12.pdf | articulo en ingles | 717.16 kB | Adobe PDF | View/Open |
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