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

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

Author Cornejo-Olivas, Mario Google Scholar
Torres, Luis Google Scholar
Velit-Salazar, Mario R. Google Scholar
Inca-Martinez, Miguel Google Scholar
Mazzetti, Pilar Google Scholar
Cosentino, Carlos Google Scholar
Micheli, Federico Google Scholar
Perandones, Claudia Google Scholar
Dieguez, Elena Google Scholar
Raggio, Victor Google Scholar
Tumas, Vitor Google Scholar
Borges, Vanderci Autor UNIFESP Google Scholar
Ferraz, Henrique B . Autor UNIFESP Google Scholar
Rieder, Carlos R. M. Google Scholar
Shumacher-Schuh, Artur Google Scholar
Velez-Pardo, Carlos Google Scholar
Jimenez-Del-Rio, Marlene Google Scholar
Lopera, Francisco Google Scholar
Chang-Castello, Jorge Google Scholar
Andree-Munoz, Brennie Google Scholar
Waldherr, Sarah Google Scholar
Yearout, Dora Google Scholar
Zabetian, Cyrus P. Google Scholar
Mata, Ignacio F. Google Scholar
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.
xmlui.dri2xhtml.METS-1.0.item-coverage London
Language English
Sponsor Parkinson's Disease Foundation
Department of Veterans Affairs
NIH
Comite para el desarrollo de la investigacion-CODI-, Universidad de Antioquia
NIH - Fogarty International Center
NIH Office of the Director
Office of Research on Women's Health
National Heart, Lung, and Blood Institute
National Institute of Mental Health
National Institute of General Medical Sciences
Office of AIDS Research
Grant number Parkinson's Disease Foundation
Department of Veterans Affairs: 1I01BX000531
NIH: R01 NS065070
Comite para el desarrollo de la investigacion-CODI-, Universidad de Antioquia: 2559
NIH - Fogarty International Center: R25 TW009345
NIH Office of the Director
Office of Research on Women's Health
National Heart, Lung, and Blood Institute
National Institute of Mental Health
National Institute of General Medical Sciences
Office of AIDS Research
Date 2017
Published in Npj Parkinsons Disease. London, v. 3, p. -, 2017.
ISSN 2373-8057 (Sherpa/Romeo, impact factor)
Publisher Nature Publishing Group
Extent -
Origin http://dx.doi.org/10.1038/s41531-017-0020-6
Access rights ACESSO ABERTO
Type Article
Web of Science ID WOS:000411054300001
URI https://repositorio.unifesp.br/handle/11600/53671

Show full item record




File

Name: WOS000411054300001.pdf
Size: 734.4Kb
Format: PDF
Description:
Open file

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account