The role of SCARB2 as susceptibility factor in Parkinson's disease.
Identifieur interne : 000A43 ( PubMed/Corpus ); précédent : 000A42; suivant : 000A44The role of SCARB2 as susceptibility factor in Parkinson's disease.
Auteurs : Franziska Hopfner ; Eva C. Schulte ; Brit Mollenhauer ; Benjamin Bereznai ; Franziska Knauf ; Peter Lichtner ; Alexander Zimprich ; Dietrich Haubenberger ; Walter Pirker ; Thomas Brücke ; Annette Peters ; Christian Gieger ; Gregor Kuhlenb Umer ; Claudia Trenkwalder ; Juliane WinkelmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genetic Variation (genetics), Genotype, Glucosylceramidase (genetics), Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Receptors, Scavenger (genetics), Risk Factors.
- MESH :
- chemical , genetics : Glucosylceramidase, Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- genetics : Genetic Variation, Mutation, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Risk Factors.
Abstract
Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.
DOI: 10.1002/mds.25349
PubMed: 23408458
Links to Exploration step
pubmed:23408458Le document en format XML
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Schulte</name></author><author><name sortKey="Mollenhauer, Brit" sort="Mollenhauer, Brit" uniqKey="Mollenhauer B" first="Brit" last="Mollenhauer">Brit Mollenhauer</name></author><author><name sortKey="Bereznai, Benjamin" sort="Bereznai, Benjamin" uniqKey="Bereznai B" first="Benjamin" last="Bereznai">Benjamin Bereznai</name></author><author><name sortKey="Knauf, Franziska" sort="Knauf, Franziska" uniqKey="Knauf F" first="Franziska" last="Knauf">Franziska Knauf</name></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author><author><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name></author><author><name sortKey="Pirker, Walter" sort="Pirker, Walter" uniqKey="Pirker W" first="Walter" last="Pirker">Walter Pirker</name></author><author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name></author><author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name></author><author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25349</idno><idno type="RBID">pubmed:23408458</idno><idno type="pmid">23408458</idno><idno type="wicri:Area/PubMed/Corpus">000A43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The role of SCARB2 as susceptibility factor in Parkinson's disease.</title><author><name sortKey="Hopfner, Franziska" sort="Hopfner, Franziska" uniqKey="Hopfner F" first="Franziska" last="Hopfner">Franziska Hopfner</name><affiliation><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. f.hopfner@neurologie.uni-kiel.de</nlm:affiliation></affiliation></author><author><name sortKey="Schulte, Eva C" sort="Schulte, Eva C" uniqKey="Schulte E" first="Eva C" last="Schulte">Eva C. Schulte</name></author><author><name sortKey="Mollenhauer, Brit" sort="Mollenhauer, Brit" uniqKey="Mollenhauer B" first="Brit" last="Mollenhauer">Brit Mollenhauer</name></author><author><name sortKey="Bereznai, Benjamin" sort="Bereznai, Benjamin" uniqKey="Bereznai B" first="Benjamin" last="Bereznai">Benjamin Bereznai</name></author><author><name sortKey="Knauf, Franziska" sort="Knauf, Franziska" uniqKey="Knauf F" first="Franziska" last="Knauf">Franziska Knauf</name></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author><author><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name></author><author><name sortKey="Pirker, Walter" sort="Pirker, Walter" uniqKey="Pirker W" first="Walter" last="Pirker">Walter Pirker</name></author><author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name></author><author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name></author><author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Lysosome-Associated Membrane Glycoproteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Receptors, Scavenger (genetics)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Lysosome-Associated Membrane Glycoproteins</term><term>Receptors, Scavenger</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23408458</PMID><DateCreated><Year>2013</Year><Month>04</Month><Day>09</Day></DateCreated><DateCompleted><Year>2013</Year><Month>11</Month><Day>27</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>4</Issue><PubDate><Year>2013</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The role of SCARB2 as susceptibility factor in Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>538-40</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25349</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02).</AbstractText><CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hopfner</LastName><ForeName>Franziska</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. f.hopfner@neurologie.uni-kiel.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schulte</LastName><ForeName>Eva C</ForeName><Initials>EC</Initials></Author><Author ValidYN="Y"><LastName>Mollenhauer</LastName><ForeName>Brit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Bereznai</LastName><ForeName>Benjamin</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Knauf</LastName><ForeName>Franziska</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lichtner</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Zimprich</LastName><ForeName>Alexander</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Haubenberger</LastName><ForeName>Dietrich</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Pirker</LastName><ForeName>Walter</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Brücke</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Peters</LastName><ForeName>Annette</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Gieger</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Kuhlenbäumer</LastName><ForeName>Gregor</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Trenkwalder</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Winkelmann</LastName><ForeName>Juliane</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>02</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051907">Lysosome-Associated Membrane Glycoproteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051116">Receptors, Scavenger</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C074299">SCARB2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014644">Genetic Variation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051907">Lysosome-Associated Membrane Glycoproteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051116">Receptors, Scavenger</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012307">Risk Factors</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>5</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>11</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>12</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>2</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>2</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>2</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25349</ArticleId><ArticleId IdType="pubmed">23408458</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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