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Hervas et al. J Transl Genet Genom 2021;5:278-87 Journal of Translational
DOI: 10.20517/jtgg.2021.25
Genetics and Genomics
Original Article Open Access
Pharmacogenetic influences on the response to
pharmacological treatment in autism spectrum
disorders
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Amaia Hervas , Alexandre Serra-LLovich , Isabel Rueda , Irene Targa , Silvina Guijarro , Aitana Bigorra ,
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Martha Cancino , Valentin Bote , Maria Cárcel , Nare Amasi-Hartoonian , Marta Hernandez , Maria J.
Arranz 2
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Department of Child and Adolescent Psychiatry, Hospital Universitari Mútua Terrassa, Terrassa 08221, Spain.
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Research Laboratory Unit, Fundació Docència i Recerca Mútua Terrassa, Terrassa 08221, Spain.
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Facultat Blanquerna, Universitat Ramon LLull, Barcelona 08025, Spain.
Correspondence to: Dr. Maria J. Arranz, Research Laboratory Unit, Fundació Docència i Recerca Mútua Terrassa, c/Sant Antoni,
19, Terrassa 08221, Spain. E-mail: mjarranz@mutuaterrassa.es
How to cite this article: Hervas A, Serra-LLovich A, Rueda I, Targa I, Guijarro S, Bigorra A, Cancino M, Bote V, Cárcel M, Amasi-
Hartoonian N, Hernandez M, Arranz MJ. Pharmacogenetic influences on the response to pharmacological treatment in autism
spectrum disorders. J Transl Genet Genom 2021;5:278-87. https://dx.doi.org/10.20517/jtgg.2021.25
Received: 7 May 2021 First Decision: 16 Jun 2021 Revised: 30 Jun 2021 Accepted: 5 Jul 2021 Available online: 12 Jul 2021
Academic Editor: Richard E. Frye Copy Editor: Yue-Yue Zhang Production Editor: Yue-Yue Zhang
Abstract
Aim: About a third of patients with autism spectrum disorder (ASD) receive pharmacological treatment for
comorbid symptoms. However, 30%-50% do not respond adequately and/or present severe and long-lasting side
effects. Previous studies have reported the influence of variants in genes coding for drug targets on the efficacy and
safety of pharmacological treatments, including genetic polymorphisms in dopaminergic and serotonergic systems.
However, most studies have focused on the adult population, with relatively few studies in children and
adolescents, and no clear biomarkers of response have been reported in these populations. The aim of our study
was to identify genetic predictors of drug response in patients with ASD. This information may be used to
personalise pharmacological treatment and improve the efficacy and safety of psychotropic drugs in patients with
ASD.
Methods: Genetic variants in dopaminergic and serotonergic drug targets (SLC6A3, DRD2, DRDRD3, DRD4, HTR2A,
and HTR2C) and in other genes previously associated with treatment efficacy and/or induced side effects (ANKK1,
BDNF, COMT, and HTR1A) were investigated in 176 children and adolescents diagnosed with ASD and undergoing
pharmacological treatment.
© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.
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