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

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buir.contributor.authorToulopoulou, Timothea
dc.citation.epage3768en_US
dc.citation.issueNumber16en_US
dc.citation.spage3753en_US
dc.citation.volumeNumber52en_US
dc.contributor.authorRibeiro, Nuno Vouga
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.accessioned2023-02-27T11:04:35Z
dc.date.available2023-02-27T11:04:35Z
dc.date.issued2022-09-28
dc.departmentNational Magnetic Resonance Research Center (UMRAM) Aysel Sabuncu Brain Research Center (BAM)en_US
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) ZNF804Ars11681373-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. © The Author(s), 2022. Published by Cambridge University Press.en_US
dc.description.provenanceSubmitted by Zeliha Bucak Çelik (zeliha.celik@bilkent.edu.tr) on 2023-02-27T11:04:35Z No. of bitstreams: 1 Effects_of_psychosis-associated_genetic_markers_on_brain_volumetry_a_systematic_review_of_replicated_findings_and_an_independent_validation.pdf: 767465 bytes, checksum: d9b705539d42bf64f4cb2695e947f012 (MD5)en
dc.description.provenanceMade available in DSpace on 2023-02-27T11:04:35Z (GMT). No. of bitstreams: 1 Effects_of_psychosis-associated_genetic_markers_on_brain_volumetry_a_systematic_review_of_replicated_findings_and_an_independent_validation.pdf: 767465 bytes, checksum: d9b705539d42bf64f4cb2695e947f012 (MD5) Previous issue date: 2022-09-28en
dc.identifier.doi10.1017/S0033291722002896en_US
dc.identifier.eissn1469-8978
dc.identifier.issn0033-2917
dc.identifier.urihttp://hdl.handle.net/11693/111817
dc.language.isoEnglishen_US
dc.publisherCambridge University Pressen_US
dc.relation.isversionofhttps://dx.doi.org/10.1017/S0033291722002896en_US
dc.source.titlePsychological Medicineen_US
dc.subjectBrain structureen_US
dc.subjectCandidate genesen_US
dc.subjectGWASen_US
dc.subjectImaging geneticsen_US
dc.subjectMRIen_US
dc.titleEffects of psychosis-associated genetic markers on brain volumetry: A systematic review of replicated findings and an independent validationen_US
dc.typeReviewen_US

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