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STX6 rs1411478 is not associated with increased risk of Parkinson's disease.
Trinh, Joanne; Vilariño-Güell, Carles; Donald, Alan; Shah, Brinda; Yu, Irene; Szu-Tu, Chelsea; Aasly, Jan O; Wu, Ruey-Meei; Hentati, Faycal; Rajput, Ali H; Rajput, Alex; Farrer, Matthew J.
Afiliación
  • Trinh J; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada V6T 2B5.
Parkinsonism Relat Disord ; 19(5): 563-5, 2013 May.
Article en En | MEDLINE | ID: mdl-23415606
ABSTRACT
A variant in Syntaxin 6 (a soluble N-ethylmaleimide-sensitive factor attachment protein receptor STX6) (rs1411478) has been shown to be associated with progressive supranuclear palsy (PSP). Although Parkinson's disease (PD) and PSP are distinct neurodegenerative diseases, they share some clinical and genetic features. In this study, we evaluated STX6 genetic variability in PD susceptibility in ethnically matched case-control series from Canada, Norway, Taiwan and Tunisia and we evaluated the presence of pathogenic mutations within families. No pathogenic mutations were found in STX6. Similarly, statistical analysis of rs1411478 failed to identify differences in genotype or allelic frequencies between cases and controls. Our results do not support a role for STX6 in PD.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Predisposición Genética a la Enfermedad / Proteínas Qa-SNARE / Estudios de Asociación Genética Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Africa / America do norte / Asia / Europa Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2013 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Predisposición Genética a la Enfermedad / Proteínas Qa-SNARE / Estudios de Asociación Genética Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Africa / America do norte / Asia / Europa Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2013 Tipo del documento: Article