Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.
Identifieur interne : 000231 ( PubMed/Corpus ); précédent : 000230; suivant : 000232Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.
Auteurs : P Xu ; R. Liang ; J. Jankovic ; C. Hunter ; Y Zeng ; T. Ashizawa ; D. Lai ; W LeSource :
- Neurology [ 0028-3878 ] ; 2002.
English descriptors
- KwdEn :
- Adult, Aged, Chi-Square Distribution, DNA-Binding Proteins, Female, Genetic Variation (genetics), Homozygote, Humans, Introns (genetics), Male, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Odds Ratio, Parkinson Disease (genetics), Polymorphism, Genetic, Transcription Factors (genetics).
- MESH :
- chemical , genetics : Transcription Factors.
- chemical : DNA-Binding Proteins, Nuclear Receptor Subfamily 4, Group A, Member 2.
- genetics : Genetic Variation, Introns, Parkinson Disease.
- Adult, Aged, Chi-Square Distribution, Female, Homozygote, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Genetic.
Abstract
To determine whether the Nurr1 gene, which is critical for the development and maintenance of nigral dopaminergic neurons, is a risk factor associated with PD.
PubMed: 11914402
Links to Exploration step
pubmed:11914402Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.</title><author><name sortKey="Xu, P Y" sort="Xu, P Y" uniqKey="Xu P" first="P" last="Xu">P Xu</name><affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Liang, R" sort="Liang, R" uniqKey="Liang R" first="R" last="Liang">R. Liang</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J. Jankovic</name></author><author><name sortKey="Hunter, C" sort="Hunter, C" uniqKey="Hunter C" first="C" last="Hunter">C. Hunter</name></author><author><name sortKey="Zeng, Y X" sort="Zeng, Y X" uniqKey="Zeng Y" first="Y" last="Zeng">Y Zeng</name></author><author><name sortKey="Ashizawa, T" sort="Ashizawa, T" uniqKey="Ashizawa T" first="T" last="Ashizawa">T. Ashizawa</name></author><author><name sortKey="Lai, D" sort="Lai, D" uniqKey="Lai D" first="D" last="Lai">D. Lai</name></author><author><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:11914402</idno><idno type="pmid">11914402</idno><idno type="wicri:Area/PubMed/Corpus">000231</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.</title><author><name sortKey="Xu, P Y" sort="Xu, P Y" uniqKey="Xu P" first="P" last="Xu">P Xu</name><affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Liang, R" sort="Liang, R" uniqKey="Liang R" first="R" last="Liang">R. Liang</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J. Jankovic</name></author><author><name sortKey="Hunter, C" sort="Hunter, C" uniqKey="Hunter C" first="C" last="Hunter">C. Hunter</name></author><author><name sortKey="Zeng, Y X" sort="Zeng, Y X" uniqKey="Zeng Y" first="Y" last="Zeng">Y Zeng</name></author><author><name sortKey="Ashizawa, T" sort="Ashizawa, T" uniqKey="Ashizawa T" first="T" last="Ashizawa">T. Ashizawa</name></author><author><name sortKey="Lai, D" sort="Lai, D" uniqKey="Lai D" first="D" last="Lai">D. Lai</name></author><author><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chi-Square Distribution</term><term>DNA-Binding Proteins</term><term>Female</term><term>Genetic Variation (genetics)</term><term>Homozygote</term><term>Humans</term><term>Introns (genetics)</term><term>Male</term><term>Middle Aged</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Transcription Factors</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>DNA-Binding Proteins</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Introns</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chi-Square Distribution</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Polymorphism, Genetic</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To determine whether the Nurr1 gene, which is critical for the development and maintenance of nigral dopaminergic neurons, is a risk factor associated with PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11914402</PMID><DateCreated><Year>2002</Year><Month>03</Month><Day>26</Day></DateCreated><DateCompleted><Year>2002</Year><Month>05</Month><Day>22</Day></DateCompleted><DateRevised><Year>2009</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0028-3878</ISSN><JournalIssue CitedMedium="Print"><Volume>58</Volume><Issue>6</Issue><PubDate><Year>2002</Year><Month>Mar</Month><Day>26</Day></PubDate></JournalIssue><Title>Neurology</Title><ISOAbbreviation>Neurology</ISOAbbreviation></Journal><ArticleTitle>Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>881-4</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To determine whether the Nurr1 gene, which is critical for the development and maintenance of nigral dopaminergic neurons, is a risk factor associated with PD.</AbstractText><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The Nurrl gene is highly expressed in the dopaminergic neurons in the midbrain. Knockout of the gene results in agenesis of nigral dopaminergic neurons and heterozygous knockout mice increases 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">This study included 105 patients with familial PD (fPD) and 120 patients with sporadic PD (sPD) and 221 age-matched healthy control subjects. The polymorphisms and mutations of the Nurr1 gene in patients with PD were initially examined by heteroduplex analysis and sequencing analysis from PCR-amplified Nurr1 gene fragments. A polymorphism in the BseRI restriction site was identified, and a relatively large-scale analysis then was conducted by three independent investigators who were blinded to the clinical status of the subjects.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">A homozygous 7048G7049 polymorphism was found in intron 6 of the Nurr1 gene, which was significantly higher in fPD (10/105; 9.5%) and in sPD (5/120; 4.2%) compared with healthy control subjects (2/221; 0.9%). The mean age and the SD at onset of these homozygote patients with PD was 52 +/- 15 years for fPD and 46 +/- 7 years for sPD. The clinical features of these homozygote patients with PD did not differ from those of typical PD.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Xu</LastName><ForeName>P-Y</ForeName><Initials>PY</Initials><AffiliationInfo><Affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Liang</LastName><ForeName>R</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hunter</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Zeng</LastName><ForeName>Y-X</ForeName><Initials>YX</Initials></Author><Author ValidYN="Y"><LastName>Ashizawa</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Lai</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Le</LastName><ForeName>W-D</ForeName><Initials>WD</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>AG40370-01</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurology</MedlineTA><NlmUniqueID>0401060</NlmUniqueID><ISSNLinking>0028-3878</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C539882">NR4A2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C539883">Nr4a2 protein, mouse</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D057126">Nuclear Receptor Subfamily 4, Group A, Member 2</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016009">Chi-Square Distribution</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D004268">DNA-Binding Proteins</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014644">Genetic Variation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D006720">Homozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007438">Introns</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="D057126">Nuclear Receptor Subfamily 4, Group A, Member 2</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016017">Odds Ratio</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014157">Transcription Factors</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>3</Month><Day>27</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>5</Month><Day>25</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>3</Month><Day>27</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11914402</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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