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Related Experiment Video

Updated: Feb 6, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

A powerful conditional gene-based association approach implicated functionally important genes for schizophrenia.

Miaoxin Li^1,2,3,4,5, Lin Jiang^1,2, Timothy Shin Heng Mak²

¹Zhongshan School of Medicine, First Affiliated Hospital, Center for Genome Research, Center for Precision Medicine, Sun Yat-sen University, Guangzhou, China.

Bioinformatics (Oxford, England)

|August 14, 2018

Summary

This summary is machine-generated.

Identifying schizophrenia susceptibility genes is challenging. A new conditional gene-based association test effectively isolates directly associated genes, suggesting common variants impact post-natal brain expression and co-expression patterns.

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Last Updated: Feb 6, 2026

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

Area of Science:

Genetics
Neuroscience
Computational Biology

Background:

Genome-wide association studies (GWAS) face challenges in identifying true susceptibility genes for complex diseases.
Distinguishing genuine disease-associated genes from indirectly linked ones and functionally validating them remains difficult.

Purpose of the Study:

To develop a novel conditional gene-based association test to isolate independently associated genes using only summary statistics.
To systematically validate the pathogenic potential of identified genes through in-silico expression and co-expression analyses.

Main Methods:

Proposed a conditional gene-based association test utilizing summary statistics.
Applied the test to identify independent association genes for schizophrenia.
Conducted in-silico validation using gene expression and co-expression data from human brain tissues.

Main Results:

Identified 185 genes independently associated with schizophrenia.
Genes showed enrichment of co-expression in normal post-natal brain regions but not in schizophrenia patients.
Independently associated genes exhibited more significant differential expression in brain tissues compared to controls.

Conclusions:

The conditional gene-based association test effectively isolates directly associated genes from indirectly associated ones.
Findings suggest common variants contribute to schizophrenia by disrupting post-natal brain expression and co-expression patterns.