Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.
Identifieur interne : 001E49 ( PubMed/Checkpoint ); précédent : 001E48; suivant : 001E50Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.
Auteurs : Elena García-Martín [Espagne] ; Carmen Martínez ; Hortensia Alonso-Navarro ; Julián Benito-Le N ; Inmaculada Puertas ; Lluisa Rubio ; Tomás L Pez-Alburquerque ; José A G. Agúndez ; Félix Javier Jiménez-JiménezSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Case-Control Studies, DNA Mutational Analysis, Essential Tremor (etiology), Essential Tremor (genetics), Essential Tremor (physiopathology), Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation (genetics), Genotype, Glycine (genetics), Humans, Male, Middle Aged, Odds Ratio, Receptors, Dopamine D3 (genetics), Serine (genetics), Spain, Young Adult.
- MESH :
- chemical , genetics : Glycine, Receptors, Dopamine D3, Serine.
- geographic : Spain.
- etiology : Essential Tremor.
- genetics : Essential Tremor, Genetic Variation.
- physiopathology : Essential Tremor.
- Adult, Age of Onset, Aged, Aged, 80 and over, Case-Control Studies, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Odds Ratio, Young Adult.
Abstract
To investigate the possible association between dopamine receptor D3 genotype (DRD3) and allelic variants and the risk for developing essential tremor (ET). Leukocytary DNA from 201 patients with ET and 282 healthy controls was studied for the genotype DRD3 and the occurrence of DRD3 allelic variants by using allele-specific PCR amplification and MslI-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/Gly genotype and of the allelic variant DRDGly were significantly higher in patients with ET than in controls (P < 0.017 and <0.005, respectively), These findings were especially relevant in women (OR = 1.73, 95% CI: 1.15-2.59, P = 0.008), and in patients with earlier onset of the disease with (P = 0.014). The frequencies of the DRD3Ser/Gly and DRD3Gly/Gly genotypes and of the allelic variant DRD3Gly in patients were significantly higher in patients with voice tremor, but not with head, tongue, or chin tremor, than in controls. The meta-analysis indicated association of variant genotypes with ET risk (OR = 1.18, 95% CI 1.01-1.38). These results suggest that DRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with the risk for voice tremor, in Caucasian Spanish people.
DOI: 10.1002/mds.22518
PubMed: 19645064
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:19645064Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.</title><author><name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="García-Martín">Elena García-Martín</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz</wicri:regionArea><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martínez">Carmen Martínez</name></author><author><name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name></author><author><name sortKey="Benito Le N, Julian" sort="Benito Le N, Julian" uniqKey="Benito Le N J" first="Julián" last="Benito-Le N">Julián Benito-Le N</name></author><author><name sortKey="Puertas, Inmaculada" sort="Puertas, Inmaculada" uniqKey="Puertas I" first="Inmaculada" last="Puertas">Inmaculada Puertas</name></author><author><name sortKey="Rubio, Lluisa" sort="Rubio, Lluisa" uniqKey="Rubio L" first="Lluisa" last="Rubio">Lluisa Rubio</name></author><author><name sortKey="L Pez Alburquerque, Tomas" sort="L Pez Alburquerque, Tomas" uniqKey="L Pez Alburquerque T" first="Tomás" last="L Pez-Alburquerque">Tomás L Pez-Alburquerque</name></author><author><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A G" last="Agúndez">José A G. Agúndez</name></author><author><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jiménez-Jiménez">Félix Javier Jiménez-Jiménez</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22518</idno><idno type="RBID">pubmed:19645064</idno><idno type="pmid">19645064</idno><idno type="wicri:Area/PubMed/Corpus">001C14</idno><idno type="wicri:Area/PubMed/Curation">001C14</idno><idno type="wicri:Area/PubMed/Checkpoint">001E49</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.</title><author><name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="García-Martín">Elena García-Martín</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz</wicri:regionArea><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martínez">Carmen Martínez</name></author><author><name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name></author><author><name sortKey="Benito Le N, Julian" sort="Benito Le N, Julian" uniqKey="Benito Le N J" first="Julián" last="Benito-Le N">Julián Benito-Le N</name></author><author><name sortKey="Puertas, Inmaculada" sort="Puertas, Inmaculada" uniqKey="Puertas I" first="Inmaculada" last="Puertas">Inmaculada Puertas</name></author><author><name sortKey="Rubio, Lluisa" sort="Rubio, Lluisa" uniqKey="Rubio L" first="Lluisa" last="Rubio">Lluisa Rubio</name></author><author><name sortKey="L Pez Alburquerque, Tomas" sort="L Pez Alburquerque, Tomas" uniqKey="L Pez Alburquerque T" first="Tomás" last="L Pez-Alburquerque">Tomás L Pez-Alburquerque</name></author><author><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A G" last="Agúndez">José A G. Agúndez</name></author><author><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jiménez-Jiménez">Félix Javier Jiménez-Jiménez</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</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>Aged, 80 and over</term><term>Case-Control Studies</term><term>DNA Mutational Analysis</term><term>Essential Tremor (etiology)</term><term>Essential Tremor (genetics)</term><term>Essential Tremor (physiopathology)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Receptors, Dopamine D3 (genetics)</term><term>Serine (genetics)</term><term>Spain</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Receptors, Dopamine D3</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Essential Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Genetic Variation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Essential Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To investigate the possible association between dopamine receptor D3 genotype (DRD3) and allelic variants and the risk for developing essential tremor (ET). Leukocytary DNA from 201 patients with ET and 282 healthy controls was studied for the genotype DRD3 and the occurrence of DRD3 allelic variants by using allele-specific PCR amplification and MslI-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/Gly genotype and of the allelic variant DRDGly were significantly higher in patients with ET than in controls (P < 0.017 and <0.005, respectively), These findings were especially relevant in women (OR = 1.73, 95% CI: 1.15-2.59, P = 0.008), and in patients with earlier onset of the disease with (P = 0.014). The frequencies of the DRD3Ser/Gly and DRD3Gly/Gly genotypes and of the allelic variant DRD3Gly in patients were significantly higher in patients with voice tremor, but not with head, tongue, or chin tremor, than in controls. The meta-analysis indicated association of variant genotypes with ET risk (OR = 1.18, 95% CI 1.01-1.38). These results suggest that DRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with the risk for voice tremor, in Caucasian Spanish people.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19645064</PMID><DateCreated><Year>2009</Year><Month>11</Month><Day>03</Day></DateCreated><DateCompleted><Year>2010</Year><Month>01</Month><Day>11</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>13</Issue><PubDate><Year>2009</Year><Month>Oct</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.</ArticleTitle><Pagination><MedlinePgn>1910-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22518</ELocationID><Abstract><AbstractText>To investigate the possible association between dopamine receptor D3 genotype (DRD3) and allelic variants and the risk for developing essential tremor (ET). Leukocytary DNA from 201 patients with ET and 282 healthy controls was studied for the genotype DRD3 and the occurrence of DRD3 allelic variants by using allele-specific PCR amplification and MslI-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/Gly genotype and of the allelic variant DRDGly were significantly higher in patients with ET than in controls (P < 0.017 and <0.005, respectively), These findings were especially relevant in women (OR = 1.73, 95% CI: 1.15-2.59, P = 0.008), and in patients with earlier onset of the disease with (P = 0.014). The frequencies of the DRD3Ser/Gly and DRD3Gly/Gly genotypes and of the allelic variant DRD3Gly in patients were significantly higher in patients with voice tremor, but not with head, tongue, or chin tremor, than in controls. The meta-analysis indicated association of variant genotypes with ET risk (OR = 1.18, 95% CI 1.01-1.38). These results suggest that DRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with the risk for voice tremor, in Caucasian Spanish people.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>García-Martín</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martínez</LastName><ForeName>Carmen</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Alonso-Navarro</LastName><ForeName>Hortensia</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Benito-León</LastName><ForeName>Julián</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Puertas</LastName><ForeName>Inmaculada</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Rubio</LastName><ForeName>Lluisa</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>López-Alburquerque</LastName><ForeName>Tomás</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Agúndez</LastName><ForeName>José A G</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Jiménez-Jiménez</LastName><ForeName>Félix Javier</ForeName><Initials>FJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D017418">Meta-Analysis</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="D050637">Receptors, Dopamine D3</NameOfSubstance></Chemical><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>TE7660XO1C</RegistryNumber><NameOfSubstance UI="D005998">Glycine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</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="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014644">Genetic Variation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005998">Glycine</DescriptorName><QualifierName MajorTopicYN="N" 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" UI="D016017">Odds Ratio</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050637">Receptors, Dopamine D3</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D013030">Spain</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>8</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>8</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22518</ArticleId><ArticleId IdType="pubmed">19645064</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Espagne</li></country></list><tree><noCountry><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A G" last="Agúndez">José A G. Agúndez</name><name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name><name sortKey="Benito Le N, Julian" sort="Benito Le N, Julian" uniqKey="Benito Le N J" first="Julián" last="Benito-Le N">Julián Benito-Le N</name><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jiménez-Jiménez">Félix Javier Jiménez-Jiménez</name><name sortKey="L Pez Alburquerque, Tomas" sort="L Pez Alburquerque, Tomas" uniqKey="L Pez Alburquerque T" first="Tomás" last="L Pez-Alburquerque">Tomás L Pez-Alburquerque</name><name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martínez">Carmen Martínez</name><name sortKey="Puertas, Inmaculada" sort="Puertas, Inmaculada" uniqKey="Puertas I" first="Inmaculada" last="Puertas">Inmaculada Puertas</name><name sortKey="Rubio, Lluisa" sort="Rubio, Lluisa" uniqKey="Rubio L" first="Lluisa" last="Rubio">Lluisa Rubio</name></noCountry><country name="Espagne"><noRegion><name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="García-Martín">Elena García-Martín</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001E49 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 001E49 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:19645064
|texte= Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:19645064" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |