Publications by authors named "Petra Tamer"
Article Synopsis
- CNVs are genetic variations that increase the risk of neurodevelopmental and psychiatric disorders, including autism and schizophrenia, impacting brain structures differently based on the specific CNV type.
- A study was conducted using harmonized protocols on 675 CNV carriers and 782 controls, revealing that all CNVs affected subcortical brain structures like the hippocampus and amygdala, with unique subregional changes identifiable through shape analyses.
- The results indicate that CNVs have varied effects on brain volume and cognition, with some clustering around adult-onset disorders while others align with autism, enhancing our understanding of the relationship between genetics and neuropsychiatric conditions.
Article Synopsis
- CNVs (Copy number variants) are linked to multiple neurodevelopmental and psychiatric disorders, with this study investigating how different CNVs impact subcortical brain structures across various conditions like autism and schizophrenia.
- Nine out of eleven studied CNVs showed effects on subcortical structure volumes, particularly in the hippocampus and amygdala, with certain CNVs correlated to cognitive effects and disease risks.
- The research revealed distinct patterns in the impact of CNVs, suggesting that some are more associated with adult disorders and others with conditions like autism, offering new insights into the variability in neuropsychiatric disorders linked to genetic factors.
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts.
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- The study investigates how different genetic factors, including oligogenic and polygenic variants, affect brain connectivity related to psychiatric disorders, aiming to better understand these complex relationships.
- The research utilized resting-state functional MRI data from multiple datasets, conducting extensive connectome-wide association studies on various genetic risk factors and psychiatric conditions involving thousands of subjects.
- Results showed that the impact on brain connectivity is strongest with psychiatric copy number variants (CNVs), while polygenic risk scores (PRSs) had relatively low effects, highlighting the challenges posed by genetic diversity in studying psychiatric conditions.
Pleiotropy occurs when a genetic variant influences more than one trait. This is a key property of the genomic architecture of psychiatric disorders and has been observed for rare and common genomic variants. It is reasonable to hypothesize that the microscale genetic overlap (pleiotropy) across psychiatric conditions and cognitive traits may lead to similar overlaps at the macroscale brain level such as large-scale brain functional networks.
View Article and Find Full Text PDFMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs.
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- Genomic copy number variants (CNVs), particularly deletions and duplications, have been linked to cognitive ability, but their specific effects on intelligence are still not fully understood, especially for duplications.
- The study involved analyzing CNVs from over 24,000 individuals and used statistical models to show that deletions decrease intelligence more significantly than duplications, with certain genes being intolerant to haploinsufficiency playing a key role.
- The findings indicate that while a small fraction of genes has a significant negative impact on intelligence, the overall effects on cognition may stem from complex interactions within the genome rather than just a few specific pathways.
Article Synopsis
- * Analyzed CNVs from autism and unselected populations using specific statistical models, finding that "probability of loss-of-function intolerance" (pLI) largely predicts the impacts on IQ and autism vulnerability.
- * Concluded that deletions of CNVs significantly lower IQ and increase autism risk, while duplications have a smaller effect on IQ and are less related to autism susceptibility; the study highlights the complex genetic contributions to autism.