GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor

Eur J Neurol. 2011 Aug;18(8):1098-100. doi: 10.1111/j.1468-1331.2010.03308.x. Epub 2010 Dec 22.

Abstract

Background: Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) 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 GABA(A) R 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 GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Essential Tremor / epidemiology
  • Essential Tremor / genetics*
  • Essential Tremor / metabolism
  • Female
  • GABA Plasma Membrane Transport Proteins / genetics*
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Receptors, GABA-A / genetics*
  • Risk Factors
  • Young Adult
  • gamma-Aminobutyric Acid / physiology

Substances

  • GABA Plasma Membrane Transport Proteins
  • Receptors, GABA-A
  • gamma-Aminobutyric Acid