SLC1A2 variant is associated with essential tremor in Taiwanese population

PLoS One. 2013 Aug 8;8(8):e71919. doi: 10.1371/journal.pone.0071919. eCollection 2013.

Abstract

Essential tremor (ET), which is one of the most common movement disorders, may lead to severe interference in quality of life. The first genome-wide association study (GWAS) has identified an association of the LINGO1 variant (rs9652490) with ET in Americans and Europeans. Recently, a second GWAS that was performed in a European population has discovered a new variant (rs3794087) of the main glial glutamate transporter (SLC1A2) that increases the risk of ET with an odds ratio of about 1.4. SLC1A2 encodes for the major glial high-affinity glutamate reuptake transporter in the brain and is a potential ET susceptibility gene. Because replication in a different ethnic population is important for validating a finding, we conducted a case-control study to investigate the SLC1A2 variant in an Asian cohort with ET in Taiwan. A total of 542 subjects (273 ET patients and 269 controls) were included. The results showed that rs3794087 was associated with ET among the Taiwanese. The odds ratio was 1.37. Our results were similar to those of the second GWAS of ET in Europeans, and this confirms that SLC1A2 may be a good functional candidate gene for ET. A replication study in another independent population is of importance to validate this association.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Essential Tremor / epidemiology
  • Essential Tremor / genetics*
  • Excitatory Amino Acid Transporter 2
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Glutamate Plasma Membrane Transport Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Taiwan / epidemiology

Substances

  • Excitatory Amino Acid Transporter 2
  • Glutamate Plasma Membrane Transport Proteins
  • SLC1A2 protein, human

Grants and funding

This study was sponsored by Chang Gung Memorial Hospital, Taipei, Taiwan (CMRPG3A0132; CMRPG331182), and National Science Council, Executive Yuan, Taiwan (NSC101-2314-B-182A-065). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.