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ArticleRevista brasileira de psiquiatria (Sao Paulo, Brazil : 1999)2025

Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions.

Júlia Arendt, Malú Zamariolli, Liriel Almodobar, Lucas Toshio Ito, Rafaella Ormond, Adrielle M Oliveira, Vanessa Ota, Luis Augusto Rohde, Euripedes Constantino Miguel, Pedro Pan and 4 more

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Article in Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Júlia ArendtDisciplina de Biologia Molecular, Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Laboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.
Malú ZamariolliDisciplina de Genética, Departamento de Morfologia e Genética, UNIFESP, São Paulo, SP, Brazil.
Liriel AlmodobarDisciplina de Biologia Molecular, Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Laboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.
Lucas Toshio ItoDisciplina de Biologia Molecular, Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Laboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.
Rafaella OrmondDisciplina de Biologia Molecular, Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Laboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.
Adrielle M OliveiraLaboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.
Vanessa OtaLaboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Disciplina de Genética, Departamento de Morfologia e Genética, UNIFESP, São Paulo, SP, Brazil.
Luis Augusto RohdePrograma de Transtornos de Déficit de Atenção/Hiperatividade, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Conselho Médico, Grupo UniEduK, São Paulo, SP, Brazil. Instituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil.
Euripedes Constantino MiguelInstituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil. Departamento de Psiquiatria, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Pedro PanLaboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Instituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil.
Rodrigo BressanLaboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Instituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil.
Giovanni SalumInstituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil. Child Mind Institute, New York, NY, USA.
Sintia BelangeroLaboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil. Disciplina de Genética, Departamento de Morfologia e Genética, UNIFESP, São Paulo, SP, Brazil. Instituto Nacional de Psiquiatria do Desenvolvimento & Centro Nacional de Inovação em Saúde Mental, São Paulo, SP, Brazil.
Marcos SantoroDisciplina de Biologia Molecular, Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Laboratório de Neurociência Integrativa, Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.

Funding

Brain and Behavior Research Foundation/2019 Young Investigator 28674Conselho Nacional de Desenvolvimento Científico e Tecnológico 573974/2008-0, 465550/2014-2Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 001Fundação de Amparo à Pesquisa do Estado de São Paulo 2008/57896-8, 2021/05332-8, 2021/12901-9, 2023/05560-6Fundação de Amparo à Pesquisa do Estado de São Paulo 2008/57896-8, 2021/05332-8, 2021/12901-9, 2023/05560-6; EMU 2023/00437-1
6 · The paper itself

Abstract

objectiveThis study's purpose was to characterize copy number variations in a Brazilian cohort regarding frequency and inheritance patterns and to determine the effect of copy number variations previously associated with mental health disorders on the risk of developing these disorders.

methodsA total of 2,250 probands and 3,174 parents (897 trios) from the Brazilian High-Risk Cohort Study for Mental Conditions (BHRCS) were genotyped, with copy number variations detected using PennCNV software.

resultsIn total, 56.03% of the copy number variations were inherited. Among the distinct copy number variations, 96.15% were rare (frequency < 1% in the BHRCS). Duplications in 2q13 and 15q13.3 were less frequent, while those in 2q11.2 and 16p11.2 were more frequent in the BHRCS than in databases such as the Database of Genomic Variants and the Genome Aggregation Database. Of the 40 copy number variations previously associated with mental health disorders, 18 were identified in the sample. While duplication in 7q11.2 has been considered protective for schizophrenia, we found that deletion in 7q11.2 was protective for mental health disorders (p = 0.033, OR = 0.103). No significant results were found for the other copy number variations, despite mild effect sizes.

conclusionsThis is one of the largest copy number variation studies to have been conducted in a Brazilian sample, and it will be a valuable resource for future meta-analysis, advancing our understanding of the genetics of mental health disorders, especially in diverse populations.

Indexed as

DNA Copy Number VariationsMental DisordersAdultBrazilCohort StudiesFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleRisk FactorsCopy number variations (CNVs)deletion 7q11.2mental health disorderspsychiatric genetics

Identifiers

PMID40014503
PMCPMC12815305

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