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Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders

2022-08-18Journal article Open access
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dc.contributor.authorVilela, Joana
dc.contributor.authorMartiniano, Hugo
dc.contributor.authorMarques, Ana Rita
dc.contributor.authorSantos, João Xavier
dc.contributor.authorRasga, Célia
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorVicente, Astrid Moura
dc.date.accessioned2023-02-01T14:07:46Z
dc.date.available2023-02-01T14:07:46Z
dc.date.issued2022-08-18
dc.descriptionFree PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36061363/pt_PT
dc.description.abstractAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment.pt_PT
dc.description.sponsorshipThis research was supported by Fundação para a Ciência e a Tecnologia (UIDB/04046/2020 and UIDP/04046/2020 Center grants to BioISI), by PAC-POCI-01-0145-FEDER-016428 MEDPERSYST, by DeePer—Deep graph learning approaches to personalized medicine (EXPL/CCI-BIO/0126/2021), and by National Institute of Health Doutor Ricardo Jorge. JV, AM, and JS are recipients of a fellowship from BioSys PhD programme PD65-2012 (JV Ref: PD/BD/131390/2017; AM Ref: PD/BD/113773/2015; and JS Ref: PD/BD/114386/2016) from Fundação para a Ciência e a Tecnologia (Portugal).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFront Mol Neurosci. 2022 Aug 18;15:932305. doi: 10.3389/fnmol.2022.932305. eCollection 2022pt_PT
dc.identifier.doi10.3389/fnmol.2022.932305pt_PT
dc.identifier.issn1662-5099
dc.identifier.urihttp://hdl.handle.net/10400.18/8486
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.relationBiosystems and Integrative Sciences Institute
dc.relationBiosystems and Integrative Sciences Institute
dc.relationDeep graph learning approaches to personalized medicine
dc.relationRegulatory RNAs in Autism Spectrum Disorder - modulation of genomic variant effects on clinical phenotype and brain structure and function
dc.relationAutism Spectrum Disorder ASD: genetic, epigenetic and environmental issues
dc.relationGene- Environment Intereactions in Austim Spectrum Disorders ASD
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fnmol.2022.932305/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectPsychiatric Geneticspt_PT
dc.subjectCross-disorder Geneticspt_PT
dc.subjectBrain Disorderspt_PT
dc.subjectDisease Similaritypt_PT
dc.subjectNetwork Analysispt_PT
dc.subjectDisease Communitypt_PT
dc.subjectDe novo Mutationspt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.titleDisease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleBiosystems and Integrative Sciences Institute
oaire.awardTitleBiosystems and Integrative Sciences Institute
oaire.awardTitleDeep graph learning approaches to personalized medicine
oaire.awardTitleRegulatory RNAs in Autism Spectrum Disorder - modulation of genomic variant effects on clinical phenotype and brain structure and function
oaire.awardTitleAutism Spectrum Disorder ASD: genetic, epigenetic and environmental issues
oaire.awardTitleGene- Environment Intereactions in Austim Spectrum Disorders ASD
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04046%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04046%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FCCI-BIO%2F0126%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F131390%2F2017/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//PD%2FBD%2F113773%2F2015/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F114386%2F2016/PT
oaire.citation.startPage932305pt_PT
oaire.citation.titleFrontiers in Molecular Neurosciencept_PT
oaire.citation.volume15pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream3599-PPCDT
oaire.fundingStreamOE
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project.funder.identifierhttp://doi.org/10.13039/501100001871
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rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
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