title: Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
abstract: Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26-4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
authors.affiliation: Departments of Biochemistry and Molecular Biology, University of Extremadura, Badajoz.
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: D000368:Aged; D000369:Aged, 80 and over; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics*; D012307:Risk Factors; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
chemical_list: C546260:GABRA4 protein, human; C546274:GABRE protein, human; C561870:GABRQ protein, human; D011963:Receptors, GABA-A; D005680:gamma-Aminobutyric Acid