Scientific publications

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

Mar 17, 2011 | Magazine: Pharmacogenetics Genomics

García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ.
Departments of Biochemistry and Molecular Biology bPharmacology and Psychiatry, University of Extremadura, Badajoz cDepartment of Medicine-Neurology, Hospital 'Príncipe de Asturias', Universidad de Alcalá, Alcalá de Henares dSection of Neurology, Hospital del Sureste, Arganda del Rey eSection of Neurology, Hospital de Móstoles fCentro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid gNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research hDepartment of Neurology, Clínica Universidad de Navarra, University of Navarra, School of Medicine, Pamplona iDepartment of Neurology, Hospital Universitario de Salamanca, Spain


Some clinical and experimental data suggest a possible role of ?-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.

CITATION  Pharmacogenet Genomics. 2011 Mar 17