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miRNA and lncRNA gene variants in Autism Spectrum Disorder

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dc.contributor.authorMarques, Ana Rita
dc.contributor.authorMartiniano, Hugo
dc.contributor.authorSantos, J.X.
dc.contributor.authorVilela, Joana
dc.contributor.authorAsif, M.
dc.contributor.authorOliveira, G.
dc.contributor.authorRomão, Luísa
dc.contributor.authorVicente, Astrid
dc.date.accessioned2019-03-06T11:51:54Z
dc.date.embargo2025-12-31
dc.date.issued2018-11
dc.description.abstractAutism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for epigenetic factors is likely. In this study we explored the potential role of noncoding RNAs in ASD by comparing the frequency of Copy Number Variants (CNVs) targeting microRNA (miRNA) or long noncoding (lncRNA) genes in ASD patients (n=3570) with control subjects (n=9649), using the Fisher’s exact test corrected for multiple testing. We found 22 miRNA genes exclusively targeted by CNVs in ASD subjects and 14 miRNA genes more frequently disrupted by CNVs in ASD patients than in controls. Two miRNA were previously associated with ASD in serum miRNA profiling studies, while 5 novel miRNAs for ASD have been described in schizophrenia, a disorder that phenotypically and genetically overlaps with ASD. Many putative targets of these 36 miRNAs are reported ASD risk genes. Gene-target enrichment analysis identified 6 significant pathways, 2 of which, the PI3K-Akt and MAPK signalling pathways, have been implicated in ASD. We further identified 102 novel lncRNA genes more frequently targeted by CNVs in ASD, 3 of which are antisense to ASD candidate genes. These results support our hypothesis that genetic variants targeting noncoding regulatory RNAs are involved in ASD pathophysiology. This systems biology integrative strategy will provide a better understanding of the biological processes underlying ASD, and contribute to biomarker and drug target discovery.pt_PT
dc.description.sponsorshipA.R.Marques is recipient of a fellowship from BioSys PhD programme (Ref PD/BD/113773/2015 from FCT (Portugal). Patients and parents were genotyped in the context of the Autism Genome Project (AGP), funded by NIMH, HRB, MRC, Autism Speaks, Hilibrand Foundation, Genome Canada, OGI, CIHR, and the Simons Simplex Collection (SSC), a core project of the Simons Foundation Autism Research Initiative (SFARI).pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6068
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectmiRNApt_PT
dc.subjectlncRNApt_PT
dc.subjectGene Variantspt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenómica Funcional e Estruturalpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mental
dc.titlemiRNA and lncRNA gene variants in Autism Spectrum Disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpt_PT
oaire.citation.title22ª Reunião Anual da Sociedade Portuguesa de Genética Humana - Molecular and Cytogenetics Club, 15-17 nov 2018pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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