MovDisordV3, PubMed, Corpus, bibRecord, 002931

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.

Identifieur interne : 002931 ( PubMed/Corpus ); précédent : 002930; suivant : 002932

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.

Auteurs : Mathias Toft ; Ignacio F. Mata ; Owen A. Ross ; Jennifer Kachergus ; Mary M. Hulihan ; Kristoffer Haugarvoll ; Jeremy T. Stone ; Marta Blazquez ; J Mark Gibson ; Jan O. Aasly ; Linda R. White ; Timothy Lynch ; Charles H. Adler ; Katrina Gwinn-Hardy ; Matthew J. Farrer

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17216639

English descriptors

KwdEn :
- Aged, Aged, 80 and over, Arginine (genetics), Case-Control Studies, Female, Genetic Predisposition to Disease, Glutamine (genetics), Humans, Male, Mutation, Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics).
MESH :
- chemical , genetics : Arginine, Glutamine, Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease.
- Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Mutation.

Abstract

An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.

DOI: 10.1002/mds.21217
PubMed: 17216639

Links to Exploration step

pubmed:17216639

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.</title>
<author><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name>
<affiliation><nlm:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F" last="Mata">Ignacio F. Mata</name>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
</author>
<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M" last="Hulihan">Mary M. Hulihan</name>
</author>
<author><name sortKey="Haugarvoll, Kristoffer" sort="Haugarvoll, Kristoffer" uniqKey="Haugarvoll K" first="Kristoffer" last="Haugarvoll">Kristoffer Haugarvoll</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="Blazquez, Marta" sort="Blazquez, Marta" uniqKey="Blazquez M" first="Marta" last="Blazquez">Marta Blazquez</name>
</author>
<author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J Mark" last="Gibson">J Mark Gibson</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="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="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H" last="Adler">Charles H. Adler</name>
</author>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</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>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21217</idno>
<idno type="RBID">pubmed:17216639</idno>
<idno type="pmid">17216639</idno>
<idno type="wicri:Area/PubMed/Corpus">002931</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.</title>
<author><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name>
<affiliation><nlm:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F" last="Mata">Ignacio F. Mata</name>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
</author>
<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M" last="Hulihan">Mary M. Hulihan</name>
</author>
<author><name sortKey="Haugarvoll, Kristoffer" sort="Haugarvoll, Kristoffer" uniqKey="Haugarvoll K" first="Kristoffer" last="Haugarvoll">Kristoffer Haugarvoll</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="Blazquez, Marta" sort="Blazquez, Marta" uniqKey="Blazquez M" first="Marta" last="Blazquez">Marta Blazquez</name>
</author>
<author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J Mark" last="Gibson">J Mark Gibson</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="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="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H" last="Adler">Charles H. Adler</name>
</author>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</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>Aged</term>
<term>Aged, 80 and over</term>
<term>Arginine (genetics)</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Glutamine (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
<term>Glutamine</term>
<term>Protein-Serine-Threonine Kinases</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>Aged, 80 and over</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17216639</PMID>
<DateCreated><Year>2007</Year>
<Month>03</Month>
<Day>06</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>05</Month>
<Day>01</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>22</Volume>
<Issue>3</Issue>
<PubDate><Year>2007</Year>
<Month>Feb</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.</ArticleTitle>
<Pagination><MedlinePgn>389-92</MedlinePgn>
</Pagination>
<Abstract><AbstractText>An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Toft</LastName>
<ForeName>Mathias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mata</LastName>
<ForeName>Ignacio F</ForeName>
<Initials>IF</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ross</LastName>
<ForeName>Owen A</ForeName>
<Initials>OA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kachergus</LastName>
<ForeName>Jennifer</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hulihan</LastName>
<ForeName>Mary M</ForeName>
<Initials>MM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Haugarvoll</LastName>
<ForeName>Kristoffer</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Stone</LastName>
<ForeName>Jeremy T</ForeName>
<Initials>JT</Initials>
</Author>
<Author ValidYN="Y"><LastName>Blazquez</LastName>
<ForeName>Marta</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gibson</LastName>
<ForeName>J Mark</ForeName>
<Initials>JM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Aasly</LastName>
<ForeName>Jan O</ForeName>
<Initials>JO</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>Adler</LastName>
<ForeName>Charles H</ForeName>
<Initials>CH</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gwinn-Hardy</LastName>
<ForeName>Katrina</ForeName>
<Initials>K</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>P01 #NS40256</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType>
<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>0RH81L854J</RegistryNumber>
<NameOfSubstance UI="D005973">Glutamine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>94ZLA3W45F</RegistryNumber>
<NameOfSubstance UI="D001120">Arginine</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>
</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="D001120">Arginine</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</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="D005973">Glutamine</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="Y" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>1</Month>
<Day>12</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>5</Month>
<Day>2</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
<Month>1</Month>
<Day>12</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21217</ArticleId>
<ArticleId IdType="pubmed">17216639</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002931 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002931 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Corpus
   |type=    RBID
   |clé=     pubmed:17216639
   |texte=   Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i   -Sk "pubmed:17216639" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki