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

Detalhes bibliográficos
Autor(a) principal: Vilela, Joana
Data de Publicação: 2022
Outros Autores: Martiniano, Hugo, Marques, Ana Rita, Santos, João Xavier, Rasga, Célia, Oliveira, Guiomar, Vicente, Astrid Moura
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8486
Resumo: Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36061363/
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spelling Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disordersAutism Spectrum DisorderPsychiatric GeneticsCross-disorder GeneticsBrain DisordersDisease SimilarityNetwork AnalysisDisease CommunityDe novo MutationsPerturbações do Desenvolvimento Infantil e Saúde MentalAutismoFree PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36061363/Autism 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.This 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).Frontiers MediaRepositório Científico do Instituto Nacional de SaúdeVilela, JoanaMartiniano, HugoMarques, Ana RitaSantos, João XavierRasga, CéliaOliveira, GuiomarVicente, Astrid Moura2023-02-01T14:07:46Z2022-08-182022-08-18T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8486engFront Mol Neurosci. 2022 Aug 18;15:932305. doi: 10.3389/fnmol.2022.932305. eCollection 20221662-509910.3389/fnmol.2022.932305info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:36Zoai:repositorio.insa.pt:10400.18/8486Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:07.815786Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
title Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
spellingShingle Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
Vilela, Joana
Autism Spectrum Disorder
Psychiatric Genetics
Cross-disorder Genetics
Brain Disorders
Disease Similarity
Network Analysis
Disease Community
De novo Mutations
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autismo
title_short Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
title_full Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
title_fullStr Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
title_full_unstemmed Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
title_sort Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders
author Vilela, Joana
author_facet Vilela, Joana
Martiniano, Hugo
Marques, Ana Rita
Santos, João Xavier
Rasga, Célia
Oliveira, Guiomar
Vicente, Astrid Moura
author_role author
author2 Martiniano, Hugo
Marques, Ana Rita
Santos, João Xavier
Rasga, Célia
Oliveira, Guiomar
Vicente, Astrid Moura
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Vilela, Joana
Martiniano, Hugo
Marques, Ana Rita
Santos, João Xavier
Rasga, Célia
Oliveira, Guiomar
Vicente, Astrid Moura
dc.subject.por.fl_str_mv Autism Spectrum Disorder
Psychiatric Genetics
Cross-disorder Genetics
Brain Disorders
Disease Similarity
Network Analysis
Disease Community
De novo Mutations
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autismo
topic Autism Spectrum Disorder
Psychiatric Genetics
Cross-disorder Genetics
Brain Disorders
Disease Similarity
Network Analysis
Disease Community
De novo Mutations
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autismo
description Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36061363/
publishDate 2022
dc.date.none.fl_str_mv 2022-08-18
2022-08-18T00:00:00Z
2023-02-01T14:07:46Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8486
url http://hdl.handle.net/10400.18/8486
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Front Mol Neurosci. 2022 Aug 18;15:932305. doi: 10.3389/fnmol.2022.932305. eCollection 2022
1662-5099
10.3389/fnmol.2022.932305
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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