Literature DB >> 23415606

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

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.
Copyright © 2013 Elsevier Ltd. All rights reserved.

Entities:  

Mesh:

Substances:

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


  12 in total

1.  Progressive multiple sclerosis does not associate with rs996343 and rs2046748.

Authors:  Cecily Q Bernales; Jay P Ross; Joshua D Lee; Yinshan Zhao; A Dessa Sadovnick; Anthony L Traboulsee; Carles Vilariño-Güell
Journal:  Mult Scler       Date:  2013-12-24       Impact factor: 6.312

2.  A knowledge-based approach for predicting gene-disease associations.

Authors:  Hongyi Zhou; Jeffrey Skolnick
Journal:  Bioinformatics       Date:  2016-06-09       Impact factor: 6.937

3.  VPS35 and DNAJC13 disease-causing variants in essential tremor.

Authors:  Alex Rajput; Jay P Ross; Cecily Q Bernales; Sruti Rayaprolu; Alexandra I Soto-Ortolaza; Owen A Ross; Jay van Gerpen; Ryan J Uitti; Zbigniew K Wszolek; Ali H Rajput; Carles Vilariño-Güell
Journal:  Eur J Hum Genet       Date:  2014-08-13       Impact factor: 4.246

4.  Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Authors:  Anthony L Traboulsee; A Dessa Sadovnick; Mary Encarnacion; Cecily Q Bernales; Irene M Yee; Maria G Criscuoli; Carles Vilariño-Güell
Journal:  Hum Genet       Date:  2017-03-23       Impact factor: 4.132

5.  Analysis of CH25H in multiple sclerosis and neuromyelitis optica.

Authors:  Amanda L Forwell; Cecily Q Bernales; Jay P Ross; Irene M Yee; Mary Encarnacion; Joshua D Lee; A Dessa Sadovnick; Anthony L Traboulsee; Carles Vilariño-Güell
Journal:  J Neuroimmunol       Date:  2015-12-31       Impact factor: 3.478

6.  Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Authors:  A Dessa Sadovnick; Ben J Gu; Anthony L Traboulsee; Cecily Q Bernales; Mary Encarnacion; Irene M Yee; Maria G Criscuoli; Xin Huang; Amber Ou; Carol J Milligan; Steven Petrou; James S Wiley; Carles Vilariño-Güell
Journal:  Hum Mutat       Date:  2017-04-13       Impact factor: 4.878

7.  Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

Authors:  Anthony L Traboulsee; Cecily Q Bernales; Jay P Ross; Joshua D Lee; A Dessa Sadovnick; Carles Vilariño-Güell
Journal:  Neurogenetics       Date:  2014-04-26       Impact factor: 2.660

8.  Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.

Authors:  Joanne Trinh; Sophie Imhoff; Marija Dulovic-Mahlow; Krishna Kumar Kandaswamy; Vera Tadic; Jochen Schäfer; Valerija Dobricic; Achim Nolte; Martin Werber; Arndt Rolfs; Alexander Münchau; Christine Klein; Katja Lohmann; Norbert Brüggemann
Journal:  J Neurol       Date:  2019-11-20       Impact factor: 4.849

9.  Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.

Authors:  Cecily Q Bernales; Mary Encarnacion; Maria G Criscuoli; Irene M Yee; Anthony L Traboulsee; A Dessa Sadovnick; Carles Vilariño-Güell
Journal:  Immunogenetics       Date:  2017-10-07       Impact factor: 2.846

10.  Utility and implications of exome sequencing in early-onset Parkinson's disease.

Authors:  Joanne Trinh; Katja Lohmann; Hauke Baumann; Alexander Balck; Max Borsche; Norbert Brüggemann; Leon Dure; Marissa Dean; Jens Volkmann; Sinem Tunc; Jannik Prasuhn; Heike Pawlack; Sophie Imhoff; Christina M Lill; Meike Kasten; Peter Bauer; Arndt Rolfs; Christine Klein
Journal:  Mov Disord       Date:  2018-12-10       Impact factor: 10.338

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.