Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Identifieur interne : 002D18 ( Main/Merge ); précédent : 002D17; suivant : 002D19Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Auteurs : Alex Rajput [Canada] ; Carles Vilari O-Güell [États-Unis] ; Michele L. Rajput [Canada] ; Owen A. Ross [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Michael G. Heckman [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ali Rajput [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-12-15.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation (genetics), Odds Ratio, Parkinson Disease (genetics), Parkinson's disease, Saskatchewan (epidemiology), Saskatchewan (ethnology), alpha-Synuclein (genetics), alpha‐synuclein, genetics.
- MESH :
- chemical , genetics : alpha-Synuclein.
- geographic , epidemiology : Saskatchewan.
- geographic , ethnology : Saskatchewan.
- genetics : Mutation, Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Odds Ratio.
Abstract
Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22795
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Cobb</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-12-15">2009-12-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2411">2411</biblScope><biblScope unit="page" to="2414">2414</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">6912C08AC993104A48B092A1B64FF94E91F653CA</idno><idno type="DOI">10.1002/mds.22795</idno><idno type="ArticleID">MDS22795</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Saskatchewan (epidemiology)</term><term>Saskatchewan (ethnology)</term><term>alpha-Synuclein (genetics)</term><term>alpha‐synuclein</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Saskatchewan</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Saskatchewan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.22795"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></author><author><name sortKey="Rajput, Michele L" sort="Rajput, Michele L" uniqKey="Rajput M" first="Michele L." last="Rajput">Michele L. Rajput</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></author><author><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:6912C08AC993104A48B092A1B64FF94E91F653CA</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22795</idno><idno type="url">https://api.istex.fr/document/6912C08AC993104A48B092A1B64FF94E91F653CA/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001549</idno><idno type="wicri:Area/Istex/Curation">001549</idno><idno type="wicri:Area/Istex/Checkpoint">001059</idno><idno type="wicri:doubleKey">0885-3185:2009:Rajput A:alpha:synuclein:polymorphisms</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Rajput, Michele L" sort="Rajput, Michele L" uniqKey="Rajput M" first="Michele L." last="Rajput">Michele L. Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-12-15">2009-12-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2411">2411</biblScope><biblScope unit="page" to="2414">2414</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">6912C08AC993104A48B092A1B64FF94E91F653CA</idno><idno type="DOI">10.1002/mds.22795</idno><idno type="ArticleID">MDS22795</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term><term>alpha‐synuclein</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population.</title><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><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></author><author><name sortKey="Rajput, Michele L" sort="Rajput, Michele L" uniqKey="Rajput M" first="Michele L" last="Rajput">Michele L. Rajput</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J" last="Lincoln">Sarah J. Lincoln</name></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G" last="Heckman">Michael G. Heckman</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22795</idno><idno type="RBID">pubmed:19890971</idno><idno type="pmid">19890971</idno><idno type="wicri:Area/PubMed/Corpus">001B09</idno><idno type="wicri:Area/PubMed/Curation">001B09</idno><idno type="wicri:Area/PubMed/Checkpoint">001F60</idno><idno type="wicri:Area/Ncbi/Merge">002874</idno><idno type="wicri:Area/Ncbi/Curation">002874</idno><idno type="wicri:Area/Ncbi/Checkpoint">002874</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population.</title><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><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></author><author><name sortKey="Rajput, Michele L" sort="Rajput, Michele L" uniqKey="Rajput M" first="Michele L" last="Rajput">Michele L. Rajput</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J" last="Lincoln">Sarah J. Lincoln</name></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G" last="Heckman">Michael G. Heckman</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Saskatchewan (epidemiology)</term><term>Saskatchewan (ethnology)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Saskatchewan</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Saskatchewan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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