Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population
Identifieur interne : 000494 ( PascalFrancis/Checkpoint ); précédent : 000493; suivant : 000495Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population
Auteurs : Alex Rajput [Canada] ; Carles Vilarino-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.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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Heckman</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0071244</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 10-0071244 INIST</idno><idno type="RBID">Pascal:10-0071244</idno><idno type="wicri:Area/PascalFrancis/Corpus">000466</idno><idno type="wicri:Area/PascalFrancis/Curation">000811</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000494</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000494</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, 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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></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><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term><term>Parkinson disease</term><term>Polymorphism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Polymorphisme</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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>24</s2></fA05><fA06><s2>16</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population</s1></fA08><fA11 i1="01" i2="1"><s1>RAJPUT (Alex)</s1></fA11><fA11 i1="02" i2="1"><s1>VILARINO-GÜELL (Carles)</s1></fA11><fA11 i1="03" i2="1"><s1>RAJPUT (Michele L.)</s1></fA11><fA11 i1="04" i2="1"><s1>ROSS (Owen A.)</s1></fA11><fA11 i1="05" i2="1"><s1>SOTO-ORTOLAZA (Alexandra I.)</s1></fA11><fA11 i1="06" i2="1"><s1>LINCOLN (Sarah J.)</s1></fA11><fA11 i1="07" i2="1"><s1>COBB (Stephanie A.)</s1></fA11><fA11 i1="08" i2="1"><s1>HECKMAN (Michael G.)</s1></fA11><fA11 i1="09" i2="1"><s1>FARRER (Matthew J.)</s1></fA11><fA11 i1="10" i2="1"><s1>RAJPUT (Ali)</s1></fA11><fA14 i1="01"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA20><s1>2411-2414</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000190005540160</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>18 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0071244</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Polymorphisme</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Polymorphism</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Polimorfismo</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>046</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-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 Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza 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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