Related Experiment Video
Updated: Dec 6, 2025
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.5K
Integrative genomics analysis identifies promising SNPs and genes implicated in tuberculosis risk based on multiple
Mengqiu Xu1, Jingjing Li2, Zhaoying Xiao1
1Department of Infectious Diseases, Shengzhou People’s Hospital, The First Affiliated Hospital of Zhejiang University Shengzhou Branch, Shengshou 312400, Zhejiang, China.
Aging
|October 14, 2020
Summary
This study identifies 26 key genes linked to tuberculosis (TB) risk by integrating genetic and gene expression data. These findings offer new insights into the genetic basis of TB susceptibility.
Area of Science:
- Genomics
- Immunology
- Infectious Diseases
Background:
- Genome-Wide Association Studies (GWAS) have identified numerous genetic loci associated with tuberculosis (TB).
- The functional impact of these genetic variants on TB susceptibility remains largely unexplored.
Purpose of the Study:
- To conduct an integrative genomics analysis to identify single nucleotide polymorphisms (SNPs) and genes implicated in TB risk.
- To prioritize candidate genes by assessing their association with both gene expression and TB susceptibility.
Main Methods:
- Integrated a large GWAS dataset (N=452,264) with eQTL datasets (N=2,242) and other omics data.
- Performed biological and technical validations to prioritize candidate genes.
- Utilized network-based enrichment analysis and differential gene expression analysis across multiple datasets.
Main Results:
- Prioritized 26 candidate genes, including CDC16 and RCN3, with eSNPs associated with both gene expression and TB susceptibility.
- Demonstrated that these 26 genes are interconnected and jointly influence TB susceptibility.
- Observed significant differential expression of 21 out of 26 genes (80.77%) in various tissues and cell types between TB patients and controls.
Conclusions:
- Provided robust evidence supporting 26 genes as critical candidates for TB.
- Highlighted the functional role of genetic variants in TB pathogenesis through gene expression modulation.
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