Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor
Identifieur interne : 002346 ( Main/Exploration ); précédent : 002345; suivant : 002347Dopamine 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]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-10-15.
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, dopamine receptor 3 gene, essential tremor, genetics, risk factors.
- 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. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22518
Affiliations:
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Le document en format XML
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<term>Essential Tremor (genetics)</term>
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<front><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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<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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