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dc.contributorUniversitat Ramon Llull. Facultat de Ciències de la Salut Blanquerna
dc.contributor.authorHervas, Amaia
dc.contributor.authorSerra-Llovich, Alexandre
dc.contributor.authorRueda, Isabel
dc.contributor.authorTarga, Irene
dc.contributor.authorGuijarro, Silvina
dc.contributor.authorBigorra, Aitana
dc.contributor.authorCancino, Martha
dc.contributor.authorBote, Valentin
dc.contributor.authorCárcel, María
dc.contributor.authorAmasi-Hartoonian, Nare
dc.contributor.authorHernández Hernández, Marta
dc.contributor.authorArranz, Maria J
dc.date.accessioned2024-01-31T19:29:52Z
dc.date.available2024-01-31T19:29:52Z
dc.date.created2021-05
dc.date.issued2021-07
dc.identifier.urihttp://hdl.handle.net/20.500.14342/3835
dc.description.abstractAim: 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. 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. Conclusion: If confirmed, these genetic variants may be used as predictors of clinical outcome and help to personalise pharmacological treatments in patients with ASD.ca
dc.format.extent10 p.ca
dc.language.isoengca
dc.publisherOAE Publishingca
dc.relation.ispartofJournal of Translational Genetics and Genomics, 2021, 5:278-287ca
dc.rights© L'autor/aca
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.otherAutismeca
dc.subject.otherFarmacogenèticaca
dc.subject.otherMetilfenidatca
dc.subject.otherAntipsicòticsca
dc.subject.otherAntidepressiusca
dc.subject.otherDopaminaca
dc.subject.otherSerotoninaca
dc.titlePharmacogenetic influences on the response to pharmacological treatment in autism spectrum disordersca
dc.typeinfo:eu-repo/semantics/articleca
dc.rights.accessLevelinfo:eu-repo/semantics/openAccess
dc.embargo.termscapca
dc.subject.udc615ca
dc.subject.udc616.89ca
dc.identifier.doihttps://doi.org/10.20517/jtgg.2021.25ca
dc.description.versioninfo:eu-repo/semantics/publishedVersionca


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