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Updated: Jun 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A common variant in DRD3 gene is associated with risperidone-induced extrapyramidal symptoms
1Department of Anatomic Pathology, Pharmacology and Microbiology, University of Barcelona, Barcelona, Spain.
A common genetic marker in the DRD3 gene, rs167771, is linked to antipsychotic-induced extrapyramidal symptoms (EPS). This finding offers a new target for predicting and managing risperidone-induced EPS.
Area of Science:
- Pharmacogenetics
- Neuroscience
- Psychiatry
Background:
- Antipsychotic (AP) medications can cause extrapyramidal symptoms (EPS), a significant public health concern.
- Understanding the genetic basis of EPS is crucial for personalized treatment strategies.
Purpose of the Study:
- To investigate the association between genetic variations in dopamine-related genes and the risk of AP-induced EPS.
- To identify specific genetic markers that predict susceptibility to EPS.
Main Methods:
- A pharmacogenetic study involving 321 psychiatric inpatients (81 cases with EPS, 189 controls without EPS).
- Extensive linkage disequilibrium mapping was performed on 84-tag single nucleotide polymorphisms (SNPs) across seven candidate genes (DRD2, DRD3, ACE, COMT, DAT, MAO-A, MAO-B).
- Association analyses were conducted for single markers and haplotypes after data cleaning.
Main Results:
- Antipsychotic dosage, DRD2 blockade potency, and age were identified as susceptibility factors for AP-induced EPS.
- A significant association was found between the DRD3 gene SNP rs167771 and EPS risk in patients treated with risperidone (P=1.3 x 10(-4)).
Conclusions:
- The common SNP rs167771 in the DRD3 gene is a strong candidate for predicting risperidone-induced EPS.
- This finding contributes to understanding the genetic underpinnings of antipsychotic side effects and may inform future risk stratification.
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