Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

Ignacio F. Mata, Greggory J. Wilhoite, Dora Yearout, Justin A. Bacon, Mario Cornejo-Olivas, Pilar Elena Mazzetti Soler, Victoria Marca, Olimpio Ortega, Oscar Acosta Conchucos, Carlos Cosentino, Luis Torres, Angel C. Medina, Carolina Perez-Pastene, Fernando Díaz-Grez, Carles Vilariño-Güell, Pablo Venegas, Marcelo Miranda, Osvaldo Trujillo-Godoy, Luis Layson, Rodrigo AvelloElena Dieguez, Victor Raggio, Federico Micheli, Claudia Perandones, Victoria Alvarez, Juan Segura-Aguilar, Matthew J. Farrer, Cyrus P. Zabetian, Owen A. Ross

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

10 Citas (Scopus)

Resumen

Mutations in the LRRK2 gene are the most common genetic cause of Parkinson's disease, with frequencies displaying a high degree of population-specificity. Although more than 100 coding substitutions have been identified, only seven have been proven to be highly penetrant pathogenic mutations. Studies however are lacking in non-white populations. Recently, Lrrk2 p.Q1111H (rs78365431) was identified in two affected Hispanic brothers and absent in 386 non-Hispanic white healthy controls. We therefore screened this variant in 1460 individuals (1150 PD patients and 310 healthy controls) from 4 Latin American countries (Peru, Chile, Uruguay and Argentina).In our case-control series from Peru and Chile we observed an increased frequency of Lrrk2 p.Q1111H in patients (7.9%) compared to controls (5.4%) although the difference did not reach significance (OR 1.38; p = 0.10).In addition, the frequency of Lrrk2 p.Q1111H varied greatly between populations and further screening in a set of pure Amerindian and pure Spanish controls suggested that this variant likely originated in an Amerindian population. Further studies in other Latin American populations are warranted to assess its role as a risk factor for Parkinson's disease. Screening in Parkinson's disease patients from under-represented populations will increase our understanding of the role of LRRK2 variants in disease risk worldwide.

Idioma originalInglés
Páginas (desde-hasta)629-631
Número de páginas3
PublicaciónParkinsonism and Related Disorders
Volumen17
N.º8
DOI
EstadoPublicada - sep 2011
Publicado de forma externa

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