title: Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.
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.
authors: Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.
authors: Elena
authors: E
authors: García-Martín
authors: Carmen
authors: C
authors: Martínez
authors: Hortensia
authors: H
authors: Alonso-Navarro
authors: Julián
authors: J
authors: Benito-León
authors: Inmaculada
authors: I
authors: Puertas
authors: Lluisa
authors: L
authors: Rubio
authors: Tomás
authors: T
authors: López-Alburquerque
authors: José A G
authors: JA
authors: Agúndez
authors: Félix Javier
authors: FJ
authors: Jiménez-Jiménez
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000209:etiology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D050637:Receptors, Dopamine D3 / Q000235:genetics*; D012694:Serine / Q000235:genetics; D013030:Spain; D055815:Young Adult
chemical_list: D050637:Receptors, Dopamine D3; D012694:Serine; D005998:Glycine