Genetics of tardive dyskinesia

Heon Jeong Lee, Seung Gul Kang

Research output: Chapter in Book/Report/Conference proceedingChapter

44 Citations (Scopus)


Tardive dyskinesia (TD) is one of the most serious adverse side effects of antipsychotic drugs and is an important topic of pharmacogenetic studies. Since there is a genetic susceptibility for developing this adverse reaction, and given that it is hard to predict its development prior to or during the early period of medication, the genetic study of TD is a promising research topic that has a direct clinical application. Moreover, such studies would improve our understanding of the genetic mechanism(s) underlying abnormal dyskinetic movement. A substantial number of case-control association studies of TD have been performed, with numbers of studies focusing on the genes involved in antipsychotic drug metabolism, such as those for cytochrome P450 (CYP) and oxidative stress related genes as well as various neurotransmitter related genes. These studies have produced relatively consistent though controversial findings for certain polymorphisms such as CYP2D6*10, DRD2 Taq1A, DRD3 Ser9Gly, HTR2A T102C, and MnSOD Ala9Val. Moreover, the application of the genome-wide association study (GWAS) to the susceptibility of TD has revealed certain associated genes that previously were never considered to be associated with TD. , such as the rs7669317 on 4q24, GLI2 gene, GABA pathway genes, and HSPG2 gene. Although a substantial number of genetic studies have investigated TD, many of the positive findings have not been replicated or are inconsistent, which could be due to differences in study design, sample size, and/or subject ethnicity. We expect that more refined research will be performed in the future to resolve these issues, which will then enable the genetic prediction of TD and clinical application thereof.

Original languageEnglish
Title of host publicationInternational Review of Neurobiology
PublisherAcademic Press Inc.
Number of pages34
Publication statusPublished - 2011

Publication series

NameInternational Review of Neurobiology
ISSN (Print)0074-7742

Bibliographical note

Funding Information:
This work was supported by the Korea Research Foundation Grant funded by the Korean Government (KRF-2008-313-E00333).


  • Antipsychotics
  • Pharmacogenetics
  • Schizophrenia
  • Tardive dyskinesia

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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