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Genome-wide Association Studies-GWAS

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.
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Transcriptome sequencing study implicates immune-related genes differentially expressed in schizophrenia: new data

A R Sanders1,2, E I Drigalenko3, J Duan1,2

  • 1Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA.

Translational Psychiatry
|April 19, 2017
PubMed
Summary
This summary is machine-generated.

This study identified 1058 differentially expressed genes in schizophrenia cases using RNA sequencing, with many linked to immune function. Findings were validated by a meta-analysis combining RNA sequencing and array data, reinforcing immune system involvement in schizophrenia.

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Area of Science:

  • Genetics
  • Neuroscience
  • Immunology

Background:

  • Schizophrenia is a complex psychiatric disorder with a significant genetic component.
  • Previous studies have suggested immune system dysregulation in schizophrenia.
  • Transcriptomic profiling offers insights into gene expression changes associated with the disorder.

Purpose of the Study:

  • To identify differentially expressed genes in schizophrenia using RNA sequencing.
  • To investigate the role of immune-related genes in schizophrenia.
  • To compare RNA sequencing findings with previous array-based studies and conduct a meta-analysis.

Main Methods:

  • RNA sequencing (RNAseq) on lymphoblastoid cell lines from 529 schizophrenia cases and 660 controls.
  • Statistical analysis to identify differentially expressed genes (DEGs).
  • Meta-analysis combining RNAseq and array-based transcriptomic data from independent cohorts.

Main Results:

  • 1058 genes were found to be differentially expressed between schizophrenia cases and controls.
  • Differentially expressed genes were significantly enriched for immune system pathways, with 697 genes showing higher expression in cases.
  • A meta-analysis of RNAseq and array data identified 169 additional DEGs and confirmed immune gene enrichment.
  • Corroborative evidence was found for previously identified genes, with 18% showing consistent differential expression and direction of effect.

Conclusions:

  • RNA sequencing provides a powerful approach to identify novel gene expression differences in schizophrenia.
  • Immune system dysregulation is a key feature of schizophrenia, supported by transcriptomic evidence.
  • The study identified new candidate genes involved in neurodevelopment and neuronal function associated with schizophrenia.