title: Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
abstract: Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: García-Martín
authors.forename: Carmen
authors.initials: C
authors.lastname: Martínez
authors.forename: Hortensia
authors.initials: H
authors.lastname: Alonso-Navarro
authors.forename: Julián
authors.initials: J
authors.lastname: Benito-León
authors.forename: Oswaldo
authors.initials: O
authors.lastname: Lorenzo-Betancor
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Puertas
authors.forename: Lluisa
authors.initials: L
authors.lastname: Rubio
authors.forename: Tomás
authors.initials: T
authors.lastname: López-Alburquerque
authors.forename: José A G
authors.initials: JA
authors.lastname: Agúndez
authors.forename: Félix Javier
authors.initials: FJ
authors.lastname: Jiménez-Jiménez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics*; D018080:Receptors, GABA-B / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: C485503:GABBR2 protein, human; C547868:GABRR1 protein, human; C547870:GABRR3 protein, human; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B
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