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

2022Artigo científico Acesso aberto
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dc.contributor.authorVouga Ribeiro, Nuno
dc.contributor.authorTavares, Vânia
dc.contributor.authorBramon, Elvira
dc.contributor.authorToulopoulou, Timothea
dc.contributor.authorValli, Isabel
dc.contributor.authorShergill, Sukhi
dc.contributor.authorMurray, Robin
dc.contributor.authorPrata, Diana
dc.date.accessioned2022-09-30T14:26:08Z
dc.date.available2022-09-30T14:26:08Z
dc.date.issued2022
dc.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.pt_PT
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipVT 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPsychol Med. 2022 Sep 28;1-16pt_PT
dc.identifier.doi10.1017/S0033291722002896pt_PT
dc.identifier.eissn1469-8978
dc.identifier.issn0033-2917
dc.identifier.urihttp://hdl.handle.net/10451/54639
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherCambridge University Presspt_PT
dc.relationFP7-PEOPLE-2013-CIG-631952pt_PT
dc.relationPrediction of the onset of schizophrenia based on a multimodal approach
dc.relationArtificial intelligence-based neuroimaging biomarkers for the diagnosis of neuropsychiatric illnesses
dc.relationInstitute of <biophysics and Biomedical Engineering
dc.relation.publisherversionhttps://www.cambridge.org/core/journals/psychological-medicinept_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectBrain structurept_PT
dc.subjectGWASpt_PT
dc.subjectMRIpt_PT
dc.subjectCandidate genespt_PT
dc.subjectImaging geneticspt_PT
dc.titleEffects of psychosis-associated genetic markers on brain volumetry: a systematic review of replicated findings and an independent validationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitlePrediction of the onset of schizophrenia based on a multimodal approach
oaire.awardTitleArtificial intelligence-based neuroimaging biomarkers for the diagnosis of neuropsychiatric illnesses
oaire.awardTitleInstitute of <biophysics and Biomedical Engineering
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F114460%2F2016/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/DSAIPA%2FDS%2F0065%2F2018/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00645%2F2020/PT
oaire.citation.endPage16pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titlePsychological Medicinept_PT
oaire.fundingStreamOE
oaire.fundingStream3599-PPCDT
oaire.fundingStream6817 - DCRRNI ID
person.familyNameVouga Ribeiro
person.familyNameTavares
person.familyNamePinto Prata
person.givenNameNuno
person.givenNameVânia
person.givenNameDiana Maria
person.identifierYaC5f4AAAAAJ&hl
person.identifier.ciencia-idA012-09CC-78E9
person.identifier.ciencia-id7B18-C8FC-904C
person.identifier.orcid0000-0002-8500-5235
person.identifier.orcid0000-0002-7446-4444
person.identifier.orcid0000-0002-4051-022X
person.identifier.scopus-author-id57220088914
person.identifier.scopus-author-id14632352500
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
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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