| Literature DB >> 23415606 |
Joanne Trinh1, Carles Vilariño-Güell, Alan Donald, Brinda Shah, Irene Yu, Chelsea Szu-Tu, Jan O Aasly, Ruey-Meei Wu, Faycal Hentati, Ali H Rajput, Alex Rajput, Matthew J Farrer.
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.Entities:
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Year: 2013 PMID: 23415606 DOI: 10.1016/j.parkreldis.2013.01.019
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN: 1353-8020 Impact factor: 4.891