Dopamine Receptor D3 (DRD3) Genotype and Allelic Variants and Risk for Essential Tremor
Identifieur interne : 002521 ( Main/Exploration ); précédent : 002520; suivant : 002522Dopamine Receptor D3 (DRD3) Genotype and Allelic Variants and Risk for Essential Tremor
Auteurs : Elena Garcia-Martin [Espagne] ; Carmen Martinez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Julián Benito-Leon [Espagne] ; Inmaculada Puertas [Espagne] ; Lluisa Rubio [Espagne] ; Tomás Lopez-Alburquerque [Espagne] ; José A. G. Agundez [Espagne] ; Félix Javier Jimenez-Jimenez [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2009.
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- Pascal (Inist)
English descriptors
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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 Ms/I-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/ Gly genotype and of the allelic variant DRDGIy 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.
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Agundez</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pharmacology & Psychiatry, Medical School, University of Extremadura</s1><s2>Badajoz</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jimenez-Jimenez">Félix Javier Jimenez-Jimenez</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares</s1><s2>Madrid</s2><s3>ESP</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 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type="wicri:Area/Main/Exploration">002521</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="Garcia-Martin">Elena Garcia-Martin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura</s1><s2>Badajoz</s2><s3>ESP</s3><sZ>1 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martinez">Carmen Martinez</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pharmacology & Psychiatry, Medical School, University of Extremadura</s1><s2>Badajoz</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares</s1><s2>Madrid</s2><s3>ESP</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Benito Leon, Julian" sort="Benito Leon, Julian" uniqKey="Benito Leon J" first="Julián" last="Benito-Leon">Julián Benito-Leon</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Section of Neurology, Hospital de Móstoles</s1><s2>Móstoles, Madrid</s2><s3>ESP</s3><sZ>4 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Puertas, Inmaculada" sort="Puertas, Inmaculada" uniqKey="Puertas I" first="Inmaculada" last="Puertas">Inmaculada Puertas</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares</s1><s2>Madrid</s2><s3>ESP</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Rubio, Lluisa" sort="Rubio, Lluisa" uniqKey="Rubio L" first="Lluisa" last="Rubio">Lluisa Rubio</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares</s1><s2>Madrid</s2><s3>ESP</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Lopez Alburquerque, Tomas" sort="Lopez Alburquerque, Tomas" uniqKey="Lopez Alburquerque T" first="Tomás" last="Lopez-Alburquerque">Tomás Lopez-Alburquerque</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Section of Neurology, Hospital Universitario de Salamanca</s1><s2>Salamanca</s2><s3>ESP</s3><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Salamanca</wicri:noRegion></affiliation></author><author><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A. G." last="Agundez">José A. G. Agundez</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pharmacology & Psychiatry, Medical School, University of Extremadura</s1><s2>Badajoz</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jimenez-Jimenez">Félix Javier Jimenez-Jimenez</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares</s1><s2>Madrid</s2><s3>ESP</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Section of Neurology, Hospital del Sureste, Arganda del Rey</s1><s2>Madrid</s2><s3>ESP</s3><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>D3 Dopamine receptor</term><term>Dopamine receptor</term><term>Genotype</term><term>Nervous system diseases</term><term>Risk factor</term><term>Tremor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term><term>Pathologie du système nerveux</term><term>Récepteur dopaminergique D3</term><term>Génotype</term><term>Facteur risque</term><term>Récepteur dopaminergique</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 Ms/I-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/ Gly genotype and of the allelic variant DRDGIy 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><affiliations><list><country><li>Espagne</li></country><region><li>Communauté de Madrid</li></region><settlement><li>Madrid</li></settlement></list><tree><country name="Espagne"><noRegion><name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="Garcia-Martin">Elena Garcia-Martin</name></noRegion><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A. G." last="Agundez">José A. G. Agundez</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 Leon, Julian" sort="Benito Leon, Julian" uniqKey="Benito Leon J" first="Julián" last="Benito-Leon">Julián Benito-Leon</name><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jimenez-Jimenez">Félix Javier Jimenez-Jimenez</name><name sortKey="Jimenez Jimenez, Felix Javier" sort="Jimenez Jimenez, Felix Javier" uniqKey="Jimenez Jimenez F" first="Félix Javier" last="Jimenez-Jimenez">Félix Javier Jimenez-Jimenez</name><name sortKey="Lopez Alburquerque, Tomas" sort="Lopez Alburquerque, Tomas" uniqKey="Lopez Alburquerque T" first="Tomás" last="Lopez-Alburquerque">Tomás Lopez-Alburquerque</name><name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martinez">Carmen Martinez</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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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