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Gene-environment interactions in Autism Spectrum Disorder (ASD)

2017-10Documento de conferência Acesso restrito
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dc.contributor.authorXavier Santos, João
dc.contributor.authorRasga, Célia
dc.contributor.authorMarques, Ana Rita
dc.contributor.authorAsif, Muhammad
dc.contributor.authorCafé, Cátia
dc.contributor.authorNunes, Ana
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorMoura-Vicente, Astrid
dc.date.accessioned2017-11-10T12:02:21Z
dc.date.available2017-11-10T12:02:21Z
dc.date.issued2017-10
dc.description.abstractAutism Spectrum Disorder – Background: Phenotypically heterogeneous neurodevelopmental disorder, with a global prevalence rate of 1% , characterized by deficits in social communication and interaction and stereotyped and repetitive behaviours. - Genetic factors, namely rare copy number variants (CNVs), are responsible for a considerable fraction of ASD cases . - The recent heritability estimates of approximately 50% suggest a role of nongenetic factors in ASD etiology. - Pre-, peri- and post-natal exposure to toxic environmental factors has been implicated in the development of the disorder[5][6] . - ASD is most probably explained by a polygenic and multifactorial mechanism that involves genetic, environmental and epigenetic interactions. Objectives: 1. To identify specific exposure patterns to environmental toxicants, potentially involved in ASD etiology, in a dataset of Portuguese children diagnosed with the disorder, aged 7-9 years old; 2. To identify variants of ASD-candidate genes interacting with environmental factors 3. To build a global mathematical model that integrates genetic and environmental biomarkers with clinical data for risk assessment in ASD.pt_PT
dc.description.sponsorshipJoão Xavier Santos is a fellow of the BioSys-PhD programme and a recipient of a scholarship funded by FCT (PD/BD/114386/2016). Autism Genome Project (AGP) and Simons Foundation Autism Research Initiative (SFARI)pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/4822
dc.language.isoengpt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectAutismopt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.titleGene-environment interactions in Autism Spectrum Disorder (ASD)pt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBeja, Portugalpt_PT
oaire.citation.title2nd BioSys Retreat, 6-7 October 2017pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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