Movement Disorders (revue)

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Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor

Identifieur interne : 002346 ( Main/Exploration ); précédent : 002345; suivant : 002347

Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor

Auteurs : Elena García-Martín [Espagne] ; Carmen Martínez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Julián Benito-Le N [Espagne] ; Inmaculada Puertas [Espagne] ; Lluisa Rubio [Espagne] ; Tomás L Pez-Alburquerque [Espagne] ; José A. G. Agúndez [Espagne] ; Félix Javier Jiménez-Jiménez [Espagne]

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RBID : ISTEX:12E30B7A963FCACD6A7DC943DCAF06F5D3907905

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English descriptors

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. © 2009 Movement Disorder Society

Url:
DOI: 10.1002/mds.22518


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Le document en format XML

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<name sortKey="Martinez, Carmen" sort="Martinez, Carmen" uniqKey="Martinez C" first="Carmen" last="Martínez">Carmen Martínez</name>
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<name sortKey="Alonso Avarro, Hortensia" sort="Alonso Avarro, Hortensia" uniqKey="Alonso Avarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name>
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<name sortKey="Jimenez Imenez, Felix Javier" sort="Jimenez Imenez, Felix Javier" uniqKey="Jimenez Imenez F" first="Félix Javier" last="Jiménez-Jiménez">Félix Javier Jiménez-Jiménez</name>
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<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>
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<div type="abstract" xml:lang="fr">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. © 2009 Movement Disorder Society</div>
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