STX6 rs1411478 is not associated with increased risk of Parkinson's disease

Joanne Trinh; 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 Farrer

doi:10.1016/j.parkreldis.2013.01.019

STX6 rs1411478 is not associated with increased risk of Parkinson's disease

Joanne Trinh, 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 Farrer

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Neurogenetik

15 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	Parkinsonism and Related Disorders
Jahrgang	19
Ausgabenummer	5
Seiten (von - bis)	563-565
Seitenumfang	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2013.01.019
Publikationsstatus	Veröffentlicht - 05.2013

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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.

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10.1016/j.parkreldis.2013.01.019

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@article{ada94d7840974c6ea8b844ea748c842b,

title = "STX6 rs1411478 is not associated with increased risk of Parkinson's disease",

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.",

author = "Joanne Trinh and Carles Vilari{\~n}o-G{\"u}ell and Alan Donald and Brinda Shah and Irene Yu and Chelsea Szu-Tu and Aasly, \{Jan O.\} and Wu, \{Ruey Meei\} and Faycal Hentati and Rajput, \{Ali H.\} and Alex Rajput and Matthew Farrer",

note = "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.",

year = "2013",

month = may,

doi = "10.1016/j.parkreldis.2013.01.019",

language = "English",

volume = "19",

pages = "563--565",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

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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 - https://www.scopus.com/pages/publications/84875527997

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 -

STX6 rs1411478 is not associated with increased risk of Parkinson's disease

Abstract

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