LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
Identifieur interne : 001038 ( PubMed/Checkpoint ); précédent : 001037; suivant : 001039LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
Auteurs : Nicolas Dupré [Canada] ; Jean-Baptiste Rivière ; Richard H. Myers ; Pierre Provencher ; Emmanuelle Pourcher ; François Emond ; Guy A. RouleauSource :
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [ 0317-1671 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Case-Control Studies, DNA Mutational Analysis, European Continental Ancestry Group (ethnology), European Continental Ancestry Group (genetics), Exons (genetics), Female, Founder Effect, Genetic Markers (genetics), Genetic Predisposition to Disease (genetics), Genetic Testing, Genotype, Haplotypes, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (diagnosis), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Quebec (epidemiology).
- MESH :
- chemical , genetics : Genetic Markers, Protein-Serine-Threonine Kinases.
- diagnosis : Parkinson Disease.
- epidemiology : Parkinson Disease, Quebec.
- ethnology : European Continental Ancestry Group.
- genetics : European Continental Ancestry Group, Exons, Genetic Predisposition to Disease, Mutation, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Age of Onset, Aged, Case-Control Studies, DNA Mutational Analysis, Female, Founder Effect, Genetic Testing, Genotype, Haplotypes, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged.
Abstract
An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% ).
PubMed: 17803032
Affiliations:
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Links to Exploration step
pubmed:17803032Le document en format XML
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Myers</name></author><author><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name></author><author><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name></author><author><name sortKey="Emond, Francois" sort="Emond, Francois" uniqKey="Emond F" first="François" last="Emond">François Emond</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17803032</idno><idno type="pmid">17803032</idno><idno type="wicri:Area/PubMed/Corpus">001054</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001054</idno><idno type="wicri:Area/PubMed/Curation">001054</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001054</idno><idno type="wicri:Area/PubMed/Checkpoint">001054</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001054</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.</title><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant Jésus, Quebec City, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant Jésus, Quebec City, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name></author><author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H" last="Myers">Richard H. Myers</name></author><author><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name></author><author><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name></author><author><name sortKey="Emond, Francois" sort="Emond, Francois" uniqKey="Emond F" first="François" last="Emond">François Emond</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></analytic><series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title><idno type="ISSN">0317-1671</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 of Onset</term><term>Aged</term><term>Case-Control Studies</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group (ethnology)</term><term>European Continental Ancestry Group (genetics)</term><term>Exons (genetics)</term><term>Female</term><term>Founder Effect</term><term>Genetic Markers (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Quebec (epidemiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term><term>Quebec</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>European Continental Ancestry Group</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Exons</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Case-Control Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Founder Effect</term><term>Genetic Testing</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% ).</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17803032</PMID><DateCreated><Year>2007</Year><Month>09</Month><Day>06</Day></DateCreated><DateCompleted><Year>2007</Year><Month>10</Month><Day>23</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0317-1671</ISSN><JournalIssue CitedMedium="Print"><Volume>34</Volume><Issue>3</Issue><PubDate><Year>2007</Year><Month>Aug</Month></PubDate></JournalIssue><Title>The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</Title><ISOAbbreviation>Can J Neurol Sci</ISOAbbreviation></Journal><ArticleTitle>LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.</ArticleTitle><Pagination><MedlinePgn>333-5</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% ).</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">Demonstrate if mutations in the LRRK2 gene are a significant cause of Parkinson's disease (PD) in the French-Canadian founder population.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Cases were recruited through a designated movement disorder clinic in Quebec City. Every index case had to meet the Ward and Gibb criteria for PD. Controls consisted of a non-disease group of similar age and ethnicity as the cases. Exons 31 and 41 of LRRK2 were amplified by PCR with intronic primers in all 125 PD cases and directly sequenced on an ABI 3700 sequencer. Six single nucleotide polymorphism were typed in 125 PD cases and 95 normal controls. Associations between unrelated cases and matched controls were analyzed. Single marker analysis and haplotype association tests were performed.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Sequencing analysis did not reveal any reported or novel mutations in exons 31 and 41 of LRRK2. The G2019S mutation as well as mutations affecting amino acid 1441 were absent in the 125 patients. The case-control association study performed to detect the presence of a common variant in LRRK2 did not provide any positive signal. Single-marker and haplotype analyses systematically gave non-significant P values.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">We performed a case-control association study in 125 French-Canadian (FC) patients with PD and 95 FC controls and found that common variants in LRRK2 are unlikely to be a significant cause of late-onset PD in this founder population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dupré</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant Jésus, Quebec City, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rivière</LastName><ForeName>Jean-Baptiste</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Myers</LastName><ForeName>Richard H</ForeName><Initials>RH</Initials></Author><Author ValidYN="Y"><LastName>Provencher</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Pourcher</LastName><ForeName>Emmanuelle</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Emond</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy A</ForeName><Initials>GA</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></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Can J Neurol Sci</MedlineTA><NlmUniqueID>0415227</NlmUniqueID><ISSNLinking>0317-1671</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</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="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Can J Neurol Sci. 2007 Aug;34(3):266-7</RefSource><PMID Version="1">17803021</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044465" MajorTopicYN="N">European Continental Ancestry Group</DescriptorName><QualifierName UI="Q000208" MajorTopicYN="N">ethnology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018703" MajorTopicYN="N">Founder Effect</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005819" MajorTopicYN="N">Genetic Markers</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000071158" MajorTopicYN="N">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011792" MajorTopicYN="N">Quebec</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>9</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>10</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>9</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17803032</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Emond, Francois" sort="Emond, Francois" uniqKey="Emond F" first="François" last="Emond">François Emond</name><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H" last="Myers">Richard H. Myers</name><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></noCountry><country name="Canada"><noRegion><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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