Related Experiment Video
Updated: Dec 21, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders
Enda M Byrne1, Zhihong Zhu2, Ting Qi2
1Institute for Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia. enda.byrne@uq.edu.au.
Researchers identified specific genetic variants linked to individual psychiatric disorders, moving beyond shared genetic risks. This finding helps pinpoint unique biological pathways for conditions like schizophrenia and major depression.
Area of Science:
- Psychiatric Genomics
- Genetic Epidemiology
- Neuroscience
Background:
- Significant genetic overlap exists among psychiatric disorders.
- Identifying disorder-specific genetic risk variants remains a challenge.
- Understanding specific genetic contributions is crucial for targeted treatments.
Purpose of the Study:
- To identify single nucleotide polymorphism (SNP) associations specific to individual psychiatric disorders.
- To differentiate between pleiotropic and disorder-specific genetic effects.
- To investigate the role of specific genes (VPS29, CSE1L, PCDHA7) in distinct psychiatric conditions.
Main Methods:
- Applied multi-trait conditional and joint analysis (mtCOJO) to GWAS summary statistics.
- Utilized data from the Psychiatric Genomics Consortium for schizophrenia (SCZ), bipolar disorder (BIP), major depression (MD), attention-deficit hyperactivity disorder (ADHD), and autism (AUT).
- Adjusted GWAS statistics to account for genetic correlations between traits.
Main Results:
- Most genome-wide significant variants showed pleiotropic effects across multiple disorders.
- Identified disorder-specific variants: 15 for SCZ, 5 for MD, 3 for ADHD, and 1 for AUT.
- VPS29 expression linked to SCZ risk; CSE1L expression associated with SCZ and MD; PCDHA7 expression implicated in MD risk and protective against SCZ/BIP.
Conclusions:
- Disentangled shared genetic liabilities from disorder-specific genetic risk factors in psychiatric disorders.
- Highlighted the potential of mtCOJO for discovering novel, condition-specific genetic associations.
- Provided evidence for specific gene expression changes contributing to the risk of individual psychiatric conditions.
More Related Videos
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Diagnostic and Statistical Manual of Mental Disorders (DSM)
Generalized Anxiety Disorder

