Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation

Detalhes bibliográficos
Autor(a) principal: Vouga Ribeiro, Nuno
Data de Publicação: 2022
Outros Autores: Tavares, Vânia, Bramon, Elvira, Toulopoulou, Timothea, Valli, Isabel, Shergill, Sukhi, Murray, Robin, Prata, Diana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/54639
Resumo: © The Author(s), 2022. Published by Cambridge University Press. This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.
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spelling Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validationBrain structureGWASMRICandidate genesImaging genetics© The Author(s), 2022. Published by Cambridge University Press. This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.Background: Given psychotic illnesses' high heritability and associations with brain structure, numerous neuroimaging-genetics findings have been reported in the last two decades. However, few findings have been replicated. In the present independent sample we aimed to replicate any psychosis-implicated SNPs (single nucleotide polymorphisms), which had previously shown at least two main effects on brain volume. Methods: A systematic review for SNPs showing a replicated effect on brain volume yielded 25 studies implicating seven SNPs in five genes. Their effect was then tested in 113 subjects with either schizophrenia, bipolar disorder, 'at risk mental state' or healthy state, for whole-brain and region-of-interest (ROI) associations with grey and white matter volume changes, using voxel-based morphometry. Results: We found FWER-corrected (Family-wise error rate) (i.e. statistically significant) associations of: (1) CACNA1C-rs769087-A with larger bilateral hippocampus and thalamus white matter, across the whole brain; and (2) CACNA1C-rs769087-A with larger superior frontal gyrus, as ROI. Higher replication concordance with existing literature was found, in decreasing order, for: (1) CACNA1C-rs769087-A, with larger dorsolateral-prefrontal/superior frontal gyrus and hippocampi (both with anatomical and directional concordance); (2) ZNF804A-rs11681373-A, with smaller angular gyrus grey matter and rectus gyri white matter (both with anatomical and directional concordance); and (3) BDNF-rs6265-T with superior frontal and middle cingulate gyri volume change (with anatomical and allelic concordance). Conclusions: Most literature findings were not herein replicated. Nevertheless, high degree/likelihood of replication was found for two genome-wide association studies- and one candidate-implicated SNPs, supporting their involvement in psychosis and brain structure.VT was supported by a Fundação para a Ciência e Tecnologia (FCT) PhD fellowship (PD/BD/114460/2016) and hired on the FCT DSAIPA/DS/0065/2018 grant. DP was supported, during this work, by the European Commission Seventh Framework Programme Marie Curie Career Integration Grant FP7-PEOPLE-2013-CIG-631952, the 2016 Bial Foundation Psychophysiology Grant – Ref. 292/16, and the FCT IF/00787/2014, LISBOA-01-0145-FEDER-030907, DSAIPA/DS/0065/2018 and UIDB/00645/2020 grants, and the Instituto de Medicina Molecular (iMM) Lisboa Director's Fund Breakthrough Idea Grant 2016.Cambridge University PressRepositório da Universidade de LisboaVouga Ribeiro, NunoTavares, VâniaBramon, ElviraToulopoulou, TimotheaValli, IsabelShergill, SukhiMurray, RobinPrata, Diana2022-09-30T14:26:08Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/54639engPsychol Med. 2022 Sep 28;1-160033-291710.1017/S00332917220028961469-8978info: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:RCAAP2023-11-08T17:01:09Zoai:repositorio.ul.pt:10451/54639Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:05:25.984002Repositório 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 Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
title Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
spellingShingle Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
Vouga Ribeiro, Nuno
Brain structure
GWAS
MRI
Candidate genes
Imaging genetics
title_short Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
title_full Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
title_fullStr Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
title_full_unstemmed Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
title_sort Effects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validation
author Vouga Ribeiro, Nuno
author_facet Vouga Ribeiro, Nuno
Tavares, Vânia
Bramon, Elvira
Toulopoulou, Timothea
Valli, Isabel
Shergill, Sukhi
Murray, Robin
Prata, Diana
author_role author
author2 Tavares, Vânia
Bramon, Elvira
Toulopoulou, Timothea
Valli, Isabel
Shergill, Sukhi
Murray, Robin
Prata, Diana
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Vouga Ribeiro, Nuno
Tavares, Vânia
Bramon, Elvira
Toulopoulou, Timothea
Valli, Isabel
Shergill, Sukhi
Murray, Robin
Prata, Diana
dc.subject.por.fl_str_mv Brain structure
GWAS
MRI
Candidate genes
Imaging genetics
topic Brain structure
GWAS
MRI
Candidate genes
Imaging genetics
description © The Author(s), 2022. Published by Cambridge University Press. This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.
publishDate 2022
dc.date.none.fl_str_mv 2022-09-30T14:26:08Z
2022
2022-01-01T00:00:00Z
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/10451/54639
url http://hdl.handle.net/10451/54639
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Psychol Med. 2022 Sep 28;1-16
0033-2917
10.1017/S0033291722002896
1469-8978
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 Cambridge University Press
publisher.none.fl_str_mv Cambridge University Press
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
repository.mail.fl_str_mv
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