STX6 rs1411478 is not associated with increased risk of Parkinson's disease.
Identifieur interne : 000C79 ( Main/Exploration ); précédent : 000C78; suivant : 000C80STX6 rs1411478 is not associated with increased risk of Parkinson's disease.
Auteurs : Joanne Trinh [Canada] ; Carles Vilari O-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. FarrerSource :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2013.
Descripteurs français
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Canada (ethnology), Case-Control Studies, Female, Genetic Association Studies (methods), Genetic Predisposition to Disease (ethnology), Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Norway (ethnology), Parkinson Disease (diagnosis), Parkinson Disease (ethnology), Parkinson Disease (genetics), Qa-SNARE Proteins (genetics), Risk Factors, Taiwan (ethnology), Tunisia (ethnology).
- MESH :
- chemical , genetics : Qa-SNARE Proteins.
- geographic , ethnology : Canada, Norway, Taiwan, Tunisia.
- diagnosis : Parkinson Disease.
- ethnology : Genetic Predisposition to Disease, Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Parkinson Disease.
- methods : Genetic Association Studies.
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Humans, Male, Middle Aged, Risk Factors.
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.
DOI: 10.1016/j.parkreldis.2013.01.019
PubMed: 23415606
Affiliations:
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Le document en format XML
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Aasly</name></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. 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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.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><name sortKey="Donald, Alan" sort="Donald, Alan" uniqKey="Donald A" first="Alan" last="Donald">Alan Donald</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><name sortKey="Shah, Brinda" sort="Shah, Brinda" uniqKey="Shah B" first="Brinda" last="Shah">Brinda Shah</name><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><name sortKey="Yu, Irene" sort="Yu, Irene" uniqKey="Yu I" first="Irene" last="Yu">Irene Yu</name></noCountry><country name="Canada"><noRegion><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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