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

dc.creatorMata, Ignacio F
dc.creatorWilhoite, Greggory J
dc.creatorYearout, Dora
dc.creatorBacon, Justin A
dc.creatorCornejo-Olivas, Mario
dc.creatorMazzetti, Pilar
dc.creatorMarca, Victoria
dc.creatorOrtega, Olimpio
dc.creatorAcosta, Oscar
dc.creatorCosentino, Carlos
dc.creatorTorres, Luis
dc.creatorMedina, Angel C
dc.creatorPerez-Pastene, Carolina
dc.creatorDíaz-Grez, Fernando
dc.creatorVilariño-Güell, Carles
dc.creatorVenegas, Pablo
dc.creatorMiranda, Marcelo
dc.creatorTrujillo-Godoy, Osvaldo
dc.creatorLayson, Luis
dc.creatorAvello, Rodrigo
dc.creatorDieguez, Elena
dc.creatorRaggio, Victor
dc.creatorMicheli, Federico E
dc.creatorPerandones, Claudia
dc.creatorAlvarez, Victoria
dc.creatorSegura-Aguilar, Juan
dc.creatorFarrer, Matthew J
dc.creatorZabetian, Cyrus P
dc.creatorRoss, Owen A
dc.date2020-05-17T21:58:16Z
dc.date2020-05-17T21:58:16Z
dc.date2011-09
dc.date.accessioned2023-08-29T20:06:50Z
dc.date.available2023-08-29T20:06:50Z
dc.identifier1353-8020
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1571
dc.identifier10.1016/j.parkreldis.2011.05.003
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8519331
dc.descriptionFil: Mata, Ignacio F. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.
dc.descriptionFil: Wilhoite, Greggory J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Yearout, Dora. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Bacon, Justin A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Cornejo-Olivas, Mario. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Mazzetti, Pilar. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Marca, Victoria. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Ortega, Olimpio. Universidad Nacional Mayor de San Marcos. School of Medicine, Lima; Perú.
dc.descriptionFil: Acosta, Oscar. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.
dc.descriptionFil: Cosentino, Carlos. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.
dc.descriptionFil: Torres, Luis. Universidad Nacional del Altiplano, Puno; Perú.
dc.descriptionFil: Medina, Angel C. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.
dc.descriptionFil: Perez-Pastene, Carolina. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.
dc.descriptionFil: Díaz-Grez, Fernando. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Vilariño-Güell, Carles. Liga del Parkinson de Chile; Chile.
dc.descriptionFil: Venegas, Pablo. Liga del Parkinson de Chile; Chile.
dc.descriptionFil: Miranda, Marcelo. Liga del Parkinson de Chile; Chile.
dc.descriptionFil: Trujillo-Godoy, Osvaldo. Hospital Barros Luco Trudeau; Chile.
dc.descriptionFil: Layson, Luis. Hospital Barros Luco Trudeau; Chile.
dc.descriptionFil: Avello, Rodrigo. Hospital Regional de Concepción; Chile.
dc.descriptionFil: Dieguez, Elena. Universidad de la República. Facultad de Medicina. Departamento de Neurología, Montevideo; Uruguay.
dc.descriptionFil: Raggio, Victor. Universidad de la República. Facultad de Medicina. Departamento de Genética, Montevideo; Uruguay.
dc.descriptionFil: Micheli, Federico E. ANLIS Dr.C.G.Malbrán; Argentina.
dc.descriptionFil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Dirección Científico Técnica; Argentina.
dc.descriptionFil: Alvarez, Victoria. Hospital Universitario Central de Asturias. Instituto de Investigación Nefrológica (IRSINFRIAT). Laboratorio de Genética Molecular, Oviedo; España.
dc.descriptionFil: Segura-Aguilar, Juan. Instituto Nacional de Ciencias Neurológicas. Unidad de Neurogenética, Lima; Perú.
dc.descriptionFil: Farrer, Matthew J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionFil: Zabetian, Cyrus P. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.
dc.descriptionFil: Ross, Owen A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
dc.descriptionMutations 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.
dc.formatpdf
dc.languageen
dc.relationParkinsonism & related disorders
dc.rightsopen
dc.sourceParkinsonism & Related Disorders 2011;17(8):629–631
dc.subjectEnfermedad de Parkinson
dc.subjectAmérica Latina
dc.subjectMutación
dc.titleLrrk2 p.Q1111H substitution and Parkinson's disease in Latin America
dc.typeArtículo


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