Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Identifieur interne : 003208 ( PubMed/Corpus ); précédent : 003207; suivant : 003209Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Auteurs : Lorraine N. Clark ; Angelique Nicolai ; Shehla Afridi ; Juliette Harris ; Helen Mejia-Santana ; Lisa Strug ; Lucien J. Cote ; Elan D. Louis ; Howard Andrews ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Stanley Fahn ; Richard Mayeux ; Ruth Ottman ; K. MarderSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Aspartic Acid, Glucosylceramidase, Serine.
- genetics : Parkinson Disease.
- Aged, Alleles, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Humans, Jews, Linkage Disequilibrium, Male, Middle Aged, Pilot Projects, Point Mutation.
Abstract
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.
DOI: 10.1002/mds.20320
PubMed: 15517591
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pubmed:15517591Le document en format XML
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Clark</name><affiliation><nlm:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</nlm:affiliation></affiliation></author><author><name sortKey="Nicolai, Angelique" sort="Nicolai, Angelique" uniqKey="Nicolai A" first="Angelique" last="Nicolai">Angelique Nicolai</name></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Strug, Lisa" sort="Strug, Lisa" uniqKey="Strug L" first="Lisa" last="Strug">Lisa Strug</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. 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Louis</name></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name></author><author><name sortKey="Marder, K" sort="Marder, K" uniqKey="Marder K" first="K" last="Marder">K. Marder</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20320</idno><idno type="RBID">pubmed:15517591</idno><idno type="pmid">15517591</idno><idno type="wicri:Area/PubMed/Corpus">003208</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name><affiliation><nlm:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</nlm:affiliation></affiliation></author><author><name sortKey="Nicolai, Angelique" sort="Nicolai, Angelique" uniqKey="Nicolai A" first="Angelique" last="Nicolai">Angelique Nicolai</name></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Strug, Lisa" sort="Strug, Lisa" uniqKey="Strug L" first="Lisa" last="Strug">Lisa Strug</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. Cote</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name></author><author><name sortKey="Marder, K" sort="Marder, K" uniqKey="Marder K" first="K" last="Marder">K. Marder</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Aspartic Acid (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Jews</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Pilot Projects</term><term>Point Mutation</term><term>Serine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Glucosylceramidase</term><term>Serine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Jews</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Pilot Projects</term><term>Point Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15517591</PMID><DateCreated><Year>2005</Year><Month>01</Month><Day>24</Day></DateCreated><DateCompleted><Year>2005</Year><Month>05</Month><Day>09</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>1</Issue><PubDate><Year>2005</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.</ArticleTitle><Pagination><MedlinePgn>100-3</MedlinePgn></Pagination><Abstract><AbstractText>Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.</AbstractText><CopyrightInformation>(c) 2004 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Clark</LastName><ForeName>Lorraine N</ForeName><Initials>LN</Initials><AffiliationInfo><Affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicolai</LastName><ForeName>Angelique</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Afridi</LastName><ForeName>Shehla</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Harris</LastName><ForeName>Juliette</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Mejia-Santana</LastName><ForeName>Helen</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Strug</LastName><ForeName>Lisa</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Cote</LastName><ForeName>Lucien J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Louis</LastName><ForeName>Elan D</ForeName><Initials>ED</Initials></Author><Author ValidYN="Y"><LastName>Andrews</LastName><ForeName>Howard</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Waters</LastName><ForeName>Cheryl</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ford</LastName><ForeName>Blair</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Frucht</LastName><ForeName>Steven</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Fahn</LastName><ForeName>Stanley</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Mayeux</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Ottman</LastName><ForeName>Ruth</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Marder</LastName><ForeName>K</ForeName><Initials>K</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P01AG07232</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>RR00645</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, 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UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001224">Aspartic Acid</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007585">Jews</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName></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="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010865">Pilot Projects</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>11</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>5</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2004</Year><Month>11</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20320</ArticleId><ArticleId IdType="pubmed">15517591</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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