Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
Identifieur interne : 001967 ( Ncbi/Merge ); précédent : 001966; suivant : 001968Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
Auteurs : Jordi Clarimon [États-Unis] ; Francesco Brancati ; Elizabeth Peckham ; Enza Maria Valente ; Bruno Dallapiccola ; Giovanni Abruzzese ; Paolo Girlanda ; Giovanni Defazio ; Alfredo Berardelli ; Mark Hallett ; Andrew B. SingletonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Blepharospasm (diagnosis), Blepharospasm (genetics), Blepharospasm (physiopathology), Case-Control Studies, DNA Primers (genetics), Female, Gene Frequency, Genotype, Humans, Linkage Disequilibrium (genetics), Male, Microsatellite Repeats (genetics), Middle Aged, Molecular Chaperones (genetics), Molecular Chaperones (physiology), Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Receptors, Dopamine D5 (genetics), Receptors, Dopamine D5 (physiology), Severity of Illness Index.
- MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones, Receptors, Dopamine D5.
- diagnosis : Blepharospasm.
- genetics : Blepharospasm, Linkage Disequilibrium, Microsatellite Repeats, Polymorphism, Genetic.
- chemical , physiology : Molecular Chaperones, Receptors, Dopamine D5.
- physiopathology : Blepharospasm.
- Case-Control Studies, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction, Severity of Illness Index.
Abstract
Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia.
DOI: 10.1002/mds.21182
PubMed: 17133500
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 002972
- to stream PubMed, to step Curation: 002972
- to stream PubMed, to step Checkpoint: 002971
Links to Exploration step
pubmed:17133500Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.</title><author><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name><affiliation wicri:level="2"><nlm:affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. jclarimon@santpau.es</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author><author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21182</idno><idno type="RBID">pubmed:17133500</idno><idno type="pmid">17133500</idno><idno type="wicri:Area/PubMed/Corpus">002972</idno><idno type="wicri:Area/PubMed/Curation">002972</idno><idno type="wicri:Area/PubMed/Checkpoint">002971</idno><idno type="wicri:Area/Ncbi/Merge">001967</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.</title><author><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name><affiliation wicri:level="2"><nlm:affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. jclarimon@santpau.es</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author><author><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</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>Blepharospasm (diagnosis)</term><term>Blepharospasm (genetics)</term><term>Blepharospasm (physiopathology)</term><term>Case-Control Studies</term><term>DNA Primers (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Linkage Disequilibrium (genetics)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Molecular Chaperones (physiology)</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic (genetics)</term><term>Receptors, Dopamine D5 (genetics)</term><term>Receptors, Dopamine D5 (physiology)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Molecular Chaperones</term><term>Receptors, Dopamine D5</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Blepharospasm</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Linkage Disequilibrium</term><term>Microsatellite Repeats</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Molecular Chaperones</term><term>Receptors, Dopamine D5</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Blepharospasm</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17133500</PMID><DateCreated><Year>2007</Year><Month>02</Month><Day>05</Day></DateCreated><DateCompleted><Year>2007</Year><Month>03</Month><Day>23</Day></DateCompleted><DateRevised><Year>2007</Year><Month>05</Month><Day>10</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.</ArticleTitle><Pagination><MedlinePgn>162-6</MedlinePgn></Pagination><Abstract><AbstractText>Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Clarimon</LastName><ForeName>Jordi</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. jclarimon@santpau.es</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brancati</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Peckham</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>Enza Maria</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Dallapiccola</LastName><ForeName>Bruno</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Abruzzese</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Girlanda</LastName><ForeName>Paolo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Defazio</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Berardelli</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Hallett</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</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>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C493605">DRD5 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>137750-35-7</RegistryNumber><NameOfSubstance UI="D050641">Receptors, Dopamine D5</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001764">Blepharospasm</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017931">DNA Primers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></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="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018895">Microsatellite Repeats</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018832">Molecular Chaperones</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050641">Receptors, Dopamine D5</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>3</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21182</ArticleId><ArticleId IdType="pubmed">17133500</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><noCountry><name sortKey="Abruzzese, Giovanni" sort="Abruzzese, Giovanni" uniqKey="Abruzzese G" first="Giovanni" last="Abruzzese">Giovanni Abruzzese</name><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><name sortKey="Peckham, Elizabeth" sort="Peckham, Elizabeth" uniqKey="Peckham E" first="Elizabeth" last="Peckham">Elizabeth Peckham</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></noCountry><country name="États-Unis"><region name="Maryland"><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001967 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 001967 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:17133500
|texte= Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:17133500" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |