FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387496695> ?p ?o ?g. }

• W4387496695 endingPage "S224" @default.
• W4387496695 startingPage "S224" @default.
• W4387496695 abstract "Psychiatric disorders have been neglected in the public health system, especially in low and middle-income countries such as Brazil. As they are multifactorial phenotypes, environmental and genetic risk factors contribute to their development. There is a high genetic correlation among psychiatric disorders. Rare genetic variants with high effect size and penetrance, such as copy number variations (CNVs), have a known impact on the development of these disorders. For example, the deletion in 22q11.2 includes approximately 90 genes and confers a 20-fold increased risk for schizophrenia, presenting with psychosis a quarter of the time. This proposal aims to analyze pathogenic CNVs associated with psychiatric disorders and verify their impact in the Brazilian High-Risk Cohort Study (BHRCS), a longitudinal study. 2,190 probands and 3,174 parents were genotyped using the SNP array and the CNVs were detected using the PennCNV software, which identifies the fluorescence intensity of the array probes and the frequency of the alleles. The identified CNVs underwent quality control excluding centromeric, telomeric, segmental duplications, and immunoglobulin regions. Adjacent CNVs were merged into one single call when there was a gap smaller than 50% of total CNV length and only CNVs with at least 10 consecutive SNVs and 1 kb in size were selected. Subsequently, we analyzed the phenotypes associated with CNVs and the genes affected by each in the UCSC Genome Browser database. We calculated the frequency of CNVs in the cohort, the individual burden of CNVs, and the proportion of inherited and de novo CNVs using RStudio software. The frequencies found were compared with population frequencies based on the DGV and gnomAD databases. Statistical analyses were based on Mann-Whitney's test, Spearman's correlation test, Analysis of Variance (ANOVA), and Tukey's test. A total of 14,304 CNVs were detected, of which 5,521 are duplications and 8,783 are deletions of up to 5 Mb. In the 897 trios, 24% of CNVs are de novo. Thirteen regions larger than 1 Mb found are associated with a high risk for the development of psychiatric disorders according to the literature, six of which are related to schizophrenia. Among the 24 individuals with schizophrenia-related CNVs, four of them were diagnosed with Generalized Anxiety Disorder and Attention Deficit Hyperactivity Disorder and they were parents of probands. Four duplications were found in the 22q11.2 region with a size of 2.5 Mb and one of them was inherited. The most common deletion and duplication were found in 8.7% and 5% of the cohort, respectively, and this duplication (8p21.3) has been associated with Autism Spectrum Disorder. Some CNVs have a similar frequency between the cohort and the general population. We found that probands with a higher CNV burden tend to have a psychiatric diagnosis (p-value = 0,4209), cognitive and school performance problems (p-value = 0,814), and average or below average IQ (p adj = 0.2012863) when compared to individuals with a lower CNV burden in BHRCS, although this was not statistically significant. This is one of the largest CNV studies in a Brazilian sample, BHRCS have a new fourth wave of data collection and we expect to follow the diagnosis of the CNV risk carriers to evaluate their transition to psychiatric disorders and its impact on cognitive tests." @default.
• W4387496695 created "2023-10-11" @default.
• W4387496695 creator A5026711828 @default.
• W4387496695 creator A5031999460 @default.
• W4387496695 creator A5043976150 @default.
• W4387496695 creator A5069624680 @default.
• W4387496695 creator A5074762366 @default.
• W4387496695 creator A5090142050 @default.
• W4387496695 creator A5091625399 @default.
• W4387496695 date "2023-10-01" @default.
• W4387496695 modified "2023-10-12" @default.
• W4387496695 title "F8. ANALYSIS OF COPY NUMBER VARIANTS (CNVS) IN A BRAZILIAN HIGH-RISK COHORT FOR PSYCHIATRIC DISORDERS" @default.
• W4387496695 doi "https://doi.org/10.1016/j.euroneuro.2023.08.397" @default.
• W4387496695 hasPublicationYear "2023" @default.
• W4387496695 type Work @default.
• W4387496695 citedByCount "0" @default.
• W4387496695 crossrefType "journal-article" @default.
• W4387496695 hasAuthorship W4387496695A5026711828 @default.
• W4387496695 hasAuthorship W4387496695A5031999460 @default.
• W4387496695 hasAuthorship W4387496695A5043976150 @default.
• W4387496695 hasAuthorship W4387496695A5069624680 @default.
• W4387496695 hasAuthorship W4387496695A5074762366 @default.
• W4387496695 hasAuthorship W4387496695A5090142050 @default.
• W4387496695 hasAuthorship W4387496695A5091625399 @default.
• W4387496695 hasConcept C104317684 @default.
• W4387496695 hasConcept C118552586 @default.
• W4387496695 hasConcept C120821319 @default.
• W4387496695 hasConcept C126322002 @default.
• W4387496695 hasConcept C127716648 @default.
• W4387496695 hasConcept C141231307 @default.
• W4387496695 hasConcept C188997412 @default.
• W4387496695 hasConcept C200544954 @default.
• W4387496695 hasConcept C2776412080 @default.
• W4387496695 hasConcept C501734568 @default.
• W4387496695 hasConcept C54355233 @default.
• W4387496695 hasConcept C71924100 @default.
• W4387496695 hasConcept C72563966 @default.
• W4387496695 hasConcept C86803240 @default.
• W4387496695 hasConceptScore W4387496695C104317684 @default.
• W4387496695 hasConceptScore W4387496695C118552586 @default.
• W4387496695 hasConceptScore W4387496695C120821319 @default.
• W4387496695 hasConceptScore W4387496695C126322002 @default.
• W4387496695 hasConceptScore W4387496695C127716648 @default.
• W4387496695 hasConceptScore W4387496695C141231307 @default.
• W4387496695 hasConceptScore W4387496695C188997412 @default.
• W4387496695 hasConceptScore W4387496695C200544954 @default.
• W4387496695 hasConceptScore W4387496695C2776412080 @default.
• W4387496695 hasConceptScore W4387496695C501734568 @default.
• W4387496695 hasConceptScore W4387496695C54355233 @default.
• W4387496695 hasConceptScore W4387496695C71924100 @default.
• W4387496695 hasConceptScore W4387496695C72563966 @default.
• W4387496695 hasConceptScore W4387496695C86803240 @default.
• W4387496695 hasLocation W43874966951 @default.
• W4387496695 hasOpenAccess W4387496695 @default.
• W4387496695 hasPrimaryLocation W43874966951 @default.
• W4387496695 hasRelatedWork W1548239972 @default.
• W4387496695 hasRelatedWork W2010458876 @default.
• W4387496695 hasRelatedWork W2019358793 @default.
• W4387496695 hasRelatedWork W2055909479 @default.
• W4387496695 hasRelatedWork W2060603217 @default.
• W4387496695 hasRelatedWork W2079736000 @default.
• W4387496695 hasRelatedWork W2416185636 @default.
• W4387496695 hasRelatedWork W4327862283 @default.
• W4387496695 hasRelatedWork W4386303559 @default.
• W4387496695 hasRelatedWork W2124884512 @default.
• W4387496695 hasVolume "75" @default.
• W4387496695 isParatext "false" @default.
• W4387496695 isRetracted "false" @default.
• W4387496695 workType "article" @default.