TY - JOUR
T1 - STX6 rs1411478 is not associated with increased risk of Parkinson's disease
AU - Trinh, Joanne
AU - Vilariño-Güell, Carles
AU - Donald, Alan
AU - Shah, Brinda
AU - Yu, Irene
AU - Szu-Tu, Chelsea
AU - Aasly, Jan O.
AU - Wu, Ruey Meei
AU - Hentati, Faycal
AU - Rajput, Ali H.
AU - Rajput, Alex
AU - Farrer, Matthew
N1 - Funding Information:
We are grateful to all individuals who generously participated in this study. This research was undertaken, in part, thanks to funding from the Canada Excellence Research Chairs program (MJF), Leading Edge Endowment Funds provided by the Province of British Columbia, LifeLabs, and Genome BC support the Dr. Donald Rix BC Leadership Chair (MJF), and the Cundhill Foundation (MJF). The authors wish to thank Dr. Rachel Gibson and the GlaxoSmithKline PD Program Team.
PY - 2013/5
Y1 - 2013/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84875527997&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2013.01.019
DO - 10.1016/j.parkreldis.2013.01.019
M3 - Journal articles
C2 - 23415606
AN - SCOPUS:84875527997
SN - 1353-8020
VL - 19
SP - 563
EP - 565
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 5
ER -
