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Title: Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America
Authors: Mata, Ignacio F 
Wilhoite, Greggory J 
Yearout, Dora 
Bacon, Justin A 
Cornejo-Olivas, Mario 
Mazzetti, Pilar 
Marca, Victoria 
Ortega, Olimpio 
Acosta, Oscar 
Cosentino, Carlos 
Torres, Luis 
Medina, Angel C 
Perez-Pastene, Carolina 
Díaz-Grez, Fernando 
Vilariño-Güell, Carles 
Venegas, Pablo 
Miranda, Marcelo 
Trujillo-Godoy, Osvaldo 
Layson, Luis 
Avello, Rodrigo 
Dieguez, Elena 
Raggio, Victor 
Micheli, Federico 
Perandones, Claudia 
Alvarez, Victoria 
Segura-Aguilar, Juan 
Farrer, Matthew J 
Zabetian, Cyrus P 
Ross, Owen A 
Keywords: Enfermedad de Parkinson
Issue Date: Sep-2011
Journal: Parkinsonism & related disorders 
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.
DOI: 10.1016/j.parkreldis.2011.05.003
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