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Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry

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dc.contributor.author Cornejo-Olivas, Mario
dc.contributor.author Torres, Luis
dc.contributor.author Velit-Salazar, Mario R.
dc.contributor.author Inca-Martinez, Miguel
dc.contributor.author Mazzetti, Pilar
dc.contributor.author Cosentino, Carlos
dc.contributor.author Micheli, Federico
dc.contributor.author Perandones, Claudia
dc.contributor.author Dieguez, Elena
dc.contributor.author Raggio, Victor
dc.contributor.author Tumas, Vitor
dc.contributor.author Borges, Vanderci
dc.contributor.author Ferraz, Henrique B.
dc.contributor.author Rieder, Carlos R. M.
dc.contributor.author Shumacher-Schuh, Artur
dc.contributor.author Velez-Pardo, Carlos
dc.contributor.author Jimenez-Del-Rio, Marlene
dc.contributor.author Lopera, Francisco
dc.contributor.author Chang-Castello, Jorge
dc.contributor.author Andreé-Munoz, Brennie
dc.contributor.author Waldherr, Sarah
dc.contributor.author Yearout, Dora
dc.contributor.author Zabetian, Cyrus P.
dc.contributor.author Mata, Ignacio F.
dc.date.accessioned 2019-01-25T16:20:56Z
dc.date.available 2019-01-25T16:20:56Z
dc.date.issued 2017
dc.identifier.uri https://hdl.handle.net/20.500.12866/4794
dc.description.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. en_US
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartofseries npj Parkinson's Disease
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Medical genetics en_US
dc.subject Parkinson's disease en_US
dc.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 en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s41531-017-0020-6
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.25
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.04
dc.relation.issn 2373-8057


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