GABAA receptor- and GABA transporter polymorphisms and risk for essential tremor

• Published in: European journal of neurology Vol. 18; no. 8; pp. 1098 - 1100
• Main Authors: Thier, S., Kuhlenbäumer, G., Lorenz, D., Nothnagel, M., Nebel, A., Christensen, K., Schreiber, S., Deuschl, G., Klebe, S.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.08.2011
• Subjects: Animal models; association study; essential tremor; GABA transporters; GABA(A) receptors; gamma -Aminobutyric acid; gamma -Aminobutyric acid A receptors; gamma -Aminobutyric acid transporter; Gene polymorphism; Single-nucleotide polymorphism; tremor
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/j.1468-1331.2010.03308.x

Background:  Clinical features and animal models of essential tremor (ET) suggest gamma‐aminobutyric acid A receptor (GABAAR) subunits and GABA transporters as putative candidate genes. Methods:  A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABAAR and four GABA transporter genes and ET. Results:  Nine nominally significant tagging SNPs (P values from 4.9 × 10−2 to 5.2 × 10−4) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77). Discussion:  In our samples, no evidence of association between GABAAR and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.