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: Elena García-Martín, Carmen Martínez, Hortensia Alonso-Navarro, Julián Benito-León, Oswaldo Lorenzo-Betancor, Pau Pastor, Inmaculada Puertas, Lluisa Rubio, Tomás López-Alburquerque, José A G Agúndez, Félix Javier Jiménez-Jiménez
• Journal: Pharmacogenetics and genomics (Pharmacogenet Genomics) Vol. 21 Issue 7 Pg. 436-9 (Jul 2011) ISSN: 1744-6880 [Electronic] United States
• PMID: 21422964 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• GABRA4 protein, human
• GABRE protein, human
• GABRQ protein, human
• Receptors, GABA-A
• gamma-Aminobutyric Acid

Topics

• Aged
• Aged, 80 and over
• Essential Tremor (genetics)
• Female
• Gene Frequency
• Genotype
• Humans
• Male
• Middle Aged
• Polymorphism, Genetic
• Polymorphism, Single Nucleotide
• Receptors, GABA-A (genetics)
• Risk Factors
• gamma-Aminobutyric Acid (metabolism)