Related Experiment Video
Updated: Aug 11, 2025
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
25.9K
Lessons Learned From Parsing Genetic Risk for Schizophrenia Into Biological Pathways
Giulio Pergola1, Nora Penzel1, Leonardo Sportelli1
1Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
Biological Psychiatry
|February 5, 2023
Summary
Parsing polygenic risk scores for schizophrenia into biological pathways offers a more accurate model of genetic risk. This approach enhances understanding of schizophrenia
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Schizophrenia exhibits clinical heterogeneity, with diverse risk factors and neurobiological underpinnings.
- Genome-wide association studies (GWAS) identify numerous genetic variants for schizophrenia, but their biological pathways are often unclear.
Purpose of the Study:
- To review methods for parsing polygenic risk scores (PRS) for schizophrenia into biological pathways.
- To highlight the advantages of pathway-parsed PRS over standard PRS for modeling schizophrenia's neurobiology.
Main Methods:
- Review of existing literature on biological labels (gene ontologies, regulome, gene coexpression) in schizophrenia genetics.
- Comparison of standard PRS with pathway-parsed PRS for physiological modeling.
Main Results:
- Biological labels provide novel insights into how genetic risk translates to schizophrenia neurobiology.
- Pathway-parsed PRS may offer more biologically plausible and accurate physiological models compared to standard PRS.
- Parsed scores can better represent dimensions like brain regions, cell types, and maturation stages.
Conclusions:
- Parsing polygenic risk into biological pathways is a promising approach for understanding schizophrenia.
- This method allows for a more granular and biologically relevant modeling of genetic contributions to schizophrenia.
- Further research is needed to address the caveats and optimize the application of parsed risk approaches.
Keywords:
Gene ontologyParsing genetic riskReference-based approachesRegulomicsSchizophreniaWeighted gene coexpression network analysisMore Related Videos
06:59A Pipeline using Bilateral In Utero Electroporation to Interrogate Genetic Influences on Rodent Behavior
Published on: May 21, 2020
4.2K
08:04Derivation, Expansion, Cryopreservation and Characterization of Brain Microvascular Endothelial Cells from Human Induced Pluripotent Stem Cells
Published on: November 19, 2020
6.5K
Related Concept Videos
01:29Biological Causes of Schizophrenia
112
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
112
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
826
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
826
01:29Psychological and Sociocultural Causes of Schizophrenia
159
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
159
01:28Human Genetics
651
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
651
01:11Genome-wide Association Studies-GWAS
13.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.8K
01:05Single Nucleotide Polymorphisms-SNPs
15.5K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.5K