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

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Arendt, Julia ; Zamariolli, Malu ; Almodobar, Liriel ; Ito, Lucas Toshio ; Ormond, Rafaella ; Oliveira, Adrielle M. ; Ota, Vanessa Kiyomi ; Rohde, Luis Augusto ; Miguel, Euripedes Constantino ; Pan, Pedro Mario ; Bressan, Rodrigo Affonseca ; Salum, Giovanni ; Belangero, Sintia ; Santoro, Marcos Leite

• Tipo de documento: Artigo Científico
• Fonte: Revista Brasileira de Psiquiatria; v. 47, p. 11-pg., 2025-01-01.

Resumo

Objective: This 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. Methods: A 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. Results: In 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. Conclusions: This 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. (AU)

• Processo FAPESP: 21/05332-8 - Coorte de alto risco para transtornos psiquiátricos: seguimento de 10 anos
• Beneficiário: Rodrigo Affonseca Bressan
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 21/12901-9 - Centro Nacional de Ciência e Inovação em Saúde Mental (CISM)
• Beneficiário: Eurípedes Constantino Miguel Filho
• Modalidade de apoio: Auxílio à Pesquisa - Programa Centros de Pesquisa Aplicada
• Processo FAPESP: 08/57896-8 - O Instituto Nacional da Psiquiatria do Desenvolvimento: uma nova abordagem para a psiquiatria tendo como foco as nossas crianças e o seu futuro
• Beneficiário: Eurípedes Constantino Miguel Filho
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 23/05560-6 - Abordagens genéticas e epigenéticas como modelos preditivos em transtornos mentais
• Beneficiário: Marcos Leite Santoro
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores
• Processo FAPESP: 24/02453-7 - Cálculo do risco para transtornos mentais considerando variantes de nucleotídeo único (SNVs), Copy Number Variation (CNVs) e expressão de miRNAs
• Beneficiário: Júlia Arendt Antonieto
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto
• Processo FAPESP: 23/00437-1 - EMU concedido no processo 2021/05332-8: Biomek i5 Automated Workstation
• Beneficiário: Rodrigo Affonseca Bressan
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários
• Processo FAPESP: 21/04591-0 - Identificação de copy number variation (CNVs) em uma coorte de crianças e adolescentes com alto risco para doenças psiquiátricas
• Beneficiário: Júlia Arendt Antonieto
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica