Logo do repositório
 
Publicação

Genetic Similarity Between nAutism Spectrum Disorder and Comorbid Brain Disorders

2025-05-27Documento de conferência Acesso restrito
Ver registo simples
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.accessioned2026-03-04T16:16:41Z
dc.date.available2026-03-04T16:16:41Z
dc.date.issued2025-05-27
dc.descriptionMaria: Adicionado palavra chave: Brain Diseases e Genetic Similaraty
dc.description.abstractBackground: A range of brain disorders are comorbid with Autism Spectrum Disorder (ASD), such as Epilepsy, Intellectual disability or Anxiety. Previous evidence suggested a shared genetic influence between ASD and several brain disorders. In this study, we sought to further substantiate the genetic similarity between ASD and a set of comorbid brain disorders. Methods: We constructed a network of 29 brain disorders based on their genetic similarity, estimated from the Jaccard coefficient between disease pairs. The Leiden algorithm was used to identify network disease communities. In 3,881 ASD cases from a whole-genome sequencing dataset, we further searched for de novo loss-of-function (LoF) Single Nucleotide Variants (SNVs) in genes shared by the disease communities. Results: Through network analysis we identified three disease communities, including a heterogeneous community that is genetically more similar to ASD, and that also includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. Several of the genes shared by diseases communities are strong ASD candidate genes, such as SHANK3, SCN2A, ASH1L or CHD2, and harbour the highest number of rare de novo LoF SNVs in ASD patients. Conclusion: This study provided further evidence for a shared genetic architecture between ASD and several other brain disorders, including some frequent comorbidities of ASD. It also showed that ASD patients have rare de novo LoF variants in genes associated with frequent comorbid disorders, and identified genes that overlap between brain disease communities.eng
dc.description.sponsorshipGrants: This research was funded by Fundação para a Ciência e a Tecnologia (FCT) (UIDB/04046/2020 (DOI:10.54499/UIDB/04046/2020) and UIDP/04046/2020 (DOI:10.54499/UIDP/04046/2020) Center grants from FCT, Portugal (to BioISI); PAC-POCI-01-0145-FEDER-016428 MEDPERSYST and DeePer (EXPL/CCI-BIO/0126/2021), J.V., A.R.M. and J.X.S. are recipients of a fellowship from the BioSys PhD program PD65-2012 (J.V. Ref: PD/BD/131390/2017; A.R.M. Ref: PD/BD/113773/2015; and J.X.S. Ref: PD/BD/114386/2016) from FCT.
dc.identifier.urihttp://hdl.handle.net/10400.18/11154
dc.language.isoeng
dc.peerreviewedn/a
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.rights.uriN/A
dc.subjectAutism Spectrum
dc.subjectComorbid Brain Disorders
dc.subjectDoenças Cardio e Cérebro-vasculares
dc.subjectBrain Diseases
dc.subjectGenetic Similarity
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mental
dc.titleGenetic Similarity Between nAutism Spectrum Disorder and Comorbid Brain Disorderseng
dc.typeconference object
dspace.entity.typePublication
oaire.awardNumberUIDB/04046/2020
oaire.awardNumberUIDP/04046/2020
oaire.awardNumberEXPL/CCI-BIO/0126/2021
oaire.awardNumberPD/BD/131390/2017
oaire.awardNumberPD/BD/113773/2015
oaire.awardNumberPD/BD/114386/2016
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.conferenceDate2025-05-24
oaire.citation.conferencePlaceMilan, Italy
oaire.citation.titleEuropean Society of Human Genetics Conference (ESHG), 24-27 May 2025
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream3599-PPCDT
oaire.fundingStreamOE
oaire.fundingStreamOE
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isProjectOfPublicationdc433369-36fd-4935-bd52-c56aa49c72e1
relation.isProjectOfPublicatione8390b4d-1833-4925-a0ab-5fff0527efaa
relation.isProjectOfPublication60040884-c76b-420a-adf1-6486acd375ef
relation.isProjectOfPublication6248bf80-c308-48f9-822e-292782c9cae6
relation.isProjectOfPublication4f218b20-344a-4d9c-a583-71713852d963
relation.isProjectOfPublication0415a4cd-2605-4be4-9278-fa7ae7cbfe07
relation.isProjectOfPublication.latestForDiscoverydc433369-36fd-4935-bd52-c56aa49c72e1

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
EP11.089 JoanaVilela.pdf
Tamanho:
2.13 MB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
4.03 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais