Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Identifieur interne : 002043 ( Main/Exploration ); précédent : 002042; suivant : 002044Alpha‐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.
Descripteurs français
- Pascal (Inist)
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), Nervous system diseases, Odds Ratio, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, 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
Affiliations:
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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="volume">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>Nervous system diseases</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Polymorphism</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><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Polymorphisme</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><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><country name="Canada"><noRegion><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></noRegion><name sortKey="Rajput, Ali" sort="Rajput, Ali" uniqKey="Rajput A" first="Ali" last="Rajput">Ali Rajput</name><name sortKey="Rajput, Michele L" sort="Rajput, Michele L" uniqKey="Rajput M" first="Michele L." last="Rajput">Michele L. Rajput</name></country><country name="États-Unis"><region name="Floride"><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></region><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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