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J Transl Genet Genom 2021;5:[Accepted].10.20517/jtgg.2021.25@The Author(s) 2021
Accepted Manuscript
Open AccessOriginal Article

Pharmacogenetic influences on the response to pharmacological treatment in autism spectrum disorders

Correspondence Address: Dr. Maria J. Arranz, Unitat Laboratory Recerca FMT, c/Sant Antoni, 19, Terrassa 08221, Spain. E-mail:


© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License (, 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.


Aim: About a third of autism spectrum disorder (ASD) patients receive pharmacological treatment for co-morbid 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 ASD patients. This information may be used to personalise pharmacological treatment and improve the efficacy and safety of psychotropic drugs in ASD patients.


Methods: Genetic variants in dopaminergic and serotonergic drug targets (SLC6A3, DRD2, DRDRD3, DRD4, HTR2A, HTR2C) and in other genes previously associated with treatment efficacy and/or induced side-effects (ANKK1, BDNF, COMT, HTR1A) were investigated in 176 children and adolescents diagnosed with ASD and undergoing pharmacological treatment.


Results: A SLC6A3 genetic variant was associated with response to methylphenidate in our ASD cohort, whereas HTR2A and HTR2C allele and haplotype distributions were associated with adverse reactions such as somnolence, mood alterations and BMI. ANKK1, COMT and BDNF genetic variants were mainly associated with treatment side-effects.


Discussion: If confirmed, these genetic variants may be used as predictors of clinical outcome and help to personalise pharmacological treatments in ASD subjects.

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:[Accept].

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