{"doi":"10.1101/2020.04.15.20056531","title":"Neuropsychiatric copy number variants exert shared effects on human brain structure","abstract":"Abstract Background Copy Number Variants (CNVs) associated with autism and schizophrenia have large effects on brain anatomy. Yet, neuroimaging studies have been conducted one mutation at a time. We hypothesize that neuropsychiatric CNVs may exert general effects on brain morphometry because they confer risk for overlapping psychiatric conditions. Methods We analyzed T1-weighted MRIs and characterized shared patterns on brain anatomy across 8 neuropsychiatric CNVs. Clinically ascertained samples included 1q21.1 (n=48), 16p11.2 (n=156), or 22q11.2 (n=96) and 331 non-carriers. Non-clinically ascertained samples from the UK Biobank included 1q21.1 (n=19), 16p11.2 (n=8), 22q11.2 (n=9), 15q11.2 (n=148) and 965 non-carriers. Canonical correlation analysis (CCA) and univariate models were used to interrogate brain morphometry changes across 8 CNVs. Results Eight CNVs affect regional brain volumes along two main gene-morphometry dimensions identified by CCA. While fronto-temporal regions contributed to dimension 1, dimension 2 was driven by subcortical, parietal and occipital regions. Consistently, voxel-wise whole-brain analyses identified the same regions involved in patterns of alteration present across the 4 deletions and duplications. These neuroanatomical patterns are similar to those observed in cross-psychiatric disorder meta-analyses. Deletions and duplications at all 4 loci show mirror effects at either the global and/or the regional level. Conclusion Neuropsychiatric CNVs share neuroanatomical signatures characterized by a parsimonious set of brain dimensions. The latter may underlie the risk conferred by CNVs for a similar spectrum of neuropsychiatric conditions.","journal":"medRxiv","year":2020,"id":123597,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9432,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":313466,"name":"Kuldeep Kumar","orcid":"0000-0003-3313-135X","position":1,"is_corresponding":false},{"id":313464,"name":"Clara Moreau","orcid":"0000-0001-6217-731X","position":2,"is_corresponding":false},{"id":566899,"name":"Sandra Martin‐Brevet","orcid":"0000-0002-3189-3505","position":3,"is_corresponding":false},{"id":313469,"name":"Guillaume Huguet","orcid":"0000-0002-4746-6030","position":4,"is_corresponding":false},{"id":313467,"name":"Catherine Schramm","orcid":"0000-0002-1185-8809","position":5,"is_corresponding":false},{"id":562267,"name":"Martineau Jean‐Louis","orcid":"0000-0002-3305-3307","position":6,"is_corresponding":false},{"id":566872,"name":"Charles-Olivier Martin","orcid":"0000-0003-1138-1649","position":7,"is_corresponding":false},{"id":567837,"name":"Nadine Younis","orcid":null,"position":8,"is_corresponding":false},{"id":562263,"name":"Petra Tamer","orcid":"0000-0003-0603-6453","position":9,"is_corresponding":false},{"id":313470,"name":"Élise Douard","orcid":"0000-0003-4205-8828","position":10,"is_corresponding":false},{"id":566900,"name":"Fanny Thébault‐Dagher","orcid":"0000-0001-7601-2292","position":11,"is_corresponding":false},{"id":566901,"name":"Valérie Côté","orcid":"0000-0001-9648-4027","position":12,"is_corresponding":false},{"id":567848,"name":"Audrey Charlebois","orcid":null,"position":13,"is_corresponding":false},{"id":566902,"name":"Florence Deguire","orcid":"0000-0001-6707-4862","position":14,"is_corresponding":false},{"id":556008,"name":"Anne Maillard","orcid":"0000-0002-4811-0693","position":15,"is_corresponding":false},{"id":562266,"name":"Borja Rodríguez‐Herreros","orcid":"0000-0001-9392-7996","position":16,"is_corresponding":false},{"id":567849,"name":"Aurélie Pain","orcid":null,"position":17,"is_corresponding":false},{"id":567850,"name":"Sonia Richetin","orcid":null,"position":18,"is_corresponding":false},{"id":263927,"name":"Leila Kushan","orcid":"0000-0002-2650-7147","position":19,"is_corresponding":false},{"id":566903,"name":"Lester Melie‐García","orcid":"0000-0001-5602-8916","position":20,"is_corresponding":false},{"id":566904,"name":"Ana Isabel Silva","orcid":"0000-0002-1184-4909","position":21,"is_corresponding":false},{"id":263883,"name":"Marianne B. 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