ELAVL4, PARK10, and the Celts.
Identifieur interne : 002847 ( PubMed/Checkpoint ); précédent : 002846; suivant : 002848ELAVL4, PARK10, and the Celts.
Auteurs : Kristoffer Haugarvoll [États-Unis] ; Mathias Toft ; Owen A. Ross ; Jeremy T. Stone ; Michael G. Heckman ; Linda R. White ; Timothy Lynch ; John Mark Gibson ; Zbigniew K. Wszolek ; Ryan J. Uitti ; Jan O. Aasly ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Norvège.
English descriptors
- KwdEn :
- Adult, Age Factors, Aged, Aged, 80 and over, Alleles, Female, Genetic Linkage (genetics), Genetic Markers, Genetic Predisposition to Disease, Hu Paraneoplastic Encephalomyelitis Antigens (genetics), Humans, Male, Middle Aged, Norway (ethnology), Parkinson Disease (ethnology), Parkinson Disease (genetics), Point Mutation (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), United States.
- MESH :
- chemical , genetics : Hu Paraneoplastic Encephalomyelitis Antigens, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- chemical : Genetic Markers.
- geographic , ethnology : Norway.
- ethnology : Parkinson Disease.
- genetics : Genetic Linkage, Parkinson Disease, Point Mutation.
- Adult, Age Factors, Aged, Aged, 80 and over, Alleles, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, United States.
Abstract
Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. We examined five markers spanning ELAVL4 in Norwegian, United States, and Irish PD case-control samples. No association was found between the examined markers and AAO or PD in Norwegian or US samples. However, ELAVL4 markers (rs967582 and rs3902720) were significantly associated with susceptibility to PD in our Irish series. Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect.
DOI: 10.1002/mds.21336
PubMed: 17230446
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:17230446Le document en format XML
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Ross</name></author><author><name sortKey="Stone, Jeremy T" sort="Stone, Jeremy T" uniqKey="Stone J" first="Jeremy T" last="Stone">Jeremy T. Stone</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="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R" last="White">Linda R. White</name></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></author><author><name sortKey="Gibson, John Mark" sort="Gibson, John Mark" uniqKey="Gibson J" first="John Mark" last="Gibson">John Mark Gibson</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Female</term><term>Genetic Linkage (genetics)</term><term>Genetic Markers</term><term>Genetic Predisposition to Disease</term><term>Hu Paraneoplastic Encephalomyelitis Antigens (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Norway (ethnology)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Point Mutation (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>United States</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Hu Paraneoplastic Encephalomyelitis Antigens</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Norway</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Linkage</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>United States</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Norvège</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. We examined five markers spanning ELAVL4 in Norwegian, United States, and Irish PD case-control samples. No association was found between the examined markers and AAO or PD in Norwegian or US samples. However, ELAVL4 markers (rs967582 and rs3902720) were significantly associated with susceptibility to PD in our Irish series. Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17230446</PMID><DateCreated><Year>2007</Year><Month>04</Month><Day>03</Day></DateCreated><DateCompleted><Year>2007</Year><Month>06</Month><Day>22</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>4</Issue><PubDate><Year>2007</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>ELAVL4, PARK10, and the Celts.</ArticleTitle><Pagination><MedlinePgn>585-7</MedlinePgn></Pagination><Abstract><AbstractText>Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. We examined five markers spanning ELAVL4 in Norwegian, United States, and Irish PD case-control samples. No association was found between the examined markers and AAO or PD in Norwegian or US samples. However, ELAVL4 markers (rs967582 and rs3902720) were significantly associated with susceptibility to PD in our Irish series. Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Haugarvoll</LastName><ForeName>Kristoffer</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA. haugarvoll.kristoffer@mayo.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Toft</LastName><ForeName>Mathias</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials></Author><Author ValidYN="Y"><LastName>Stone</LastName><ForeName>Jeremy T</ForeName><Initials>JT</Initials></Author><Author ValidYN="Y"><LastName>Heckman</LastName><ForeName>Michael G</ForeName><Initials>MG</Initials></Author><Author ValidYN="Y"><LastName>White</LastName><ForeName>Linda R</ForeName><Initials>LR</Initials></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Timothy</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Gibson</LastName><ForeName>John Mark</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Wszolek</LastName><ForeName>Zbigniew K</ForeName><Initials>ZK</Initials></Author><Author ValidYN="Y"><LastName>Uitti</LastName><ForeName>Ryan J</ForeName><Initials>RJ</Initials></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 AG022579</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></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="C498010">ELAVL4 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051959">Hu Paraneoplastic Encephalomyelitis Antigens</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><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="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051959">Hu Paraneoplastic Encephalomyelitis Antigens</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</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" Type="Geographic" UI="D009664">Norway</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D014481">United States</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>6</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21336</ArticleId><ArticleId IdType="pubmed">17230446</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><noCountry><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Gibson, John Mark" sort="Gibson, John Mark" uniqKey="Gibson J" first="John Mark" last="Gibson">John Mark Gibson</name><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G" last="Heckman">Michael G. Heckman</name><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name><name sortKey="Stone, Jeremy T" sort="Stone, Jeremy T" uniqKey="Stone J" first="Jeremy T" last="Stone">Jeremy T. Stone</name><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R" last="White">Linda R. White</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></noCountry><country name="États-Unis"><region name="Floride"><name sortKey="Haugarvoll, Kristoffer" sort="Haugarvoll, Kristoffer" uniqKey="Haugarvoll K" first="Kristoffer" last="Haugarvoll">Kristoffer Haugarvoll</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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