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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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Related Experiment Video

Updated: Sep 14, 2025

A Data-Driven Approach to Quantifying Immune States in Sepsis
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A Data-Driven Approach to Quantifying Immune States in Sepsis

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Novel Susceptibility Genes for Sepsis Revealed by a Cross-Tissue Transcriptome-Wide Association Study.

Linfeng Tao1, Ning Zhu1, Yue Zhu2

  • 1Gusu School of Nanjing Medical University, Department of Critical Care Medicine and Emergency, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou Clinical Medical Center of Critical Care Medicine, Suzhou, China.

Shock (Augusta, Ga.)
|July 24, 2025
PubMed
Summary
This summary is machine-generated.

This study used cross-tissue transcriptome-wide association studies (TWAS) to identify four key genes associated with sepsis susceptibility. These findings offer new genetic targets for sepsis treatment and understanding its complex pathogenesis.

Keywords:
MAGMASepsisTWASUTMOSTeQTLs

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Sepsis is a life-threatening condition with a significant global health impact.
  • Genomic and transcriptomic advancements allow for genetic-level exploration of sepsis.
  • Integrating genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) is crucial for understanding sepsis.

Purpose of the Study:

  • To identify genetic variants associated with sepsis susceptibility and outcomes.
  • To explore the molecular mechanisms underlying sepsis pathogenesis.
  • To leverage integrated GWAS and TWAS for novel therapeutic targets.

Main Methods:

  • Cross-tissue TWAS was performed using UTMOST, integrating sepsis GWAS with GTEx v8 transcriptomic data.
  • Candidate genes were validated using FUSION, FOCUS, and MAGMA.
  • Bayesian colocalization and Mendelian randomization (MR) were used to infer causal relationships.

Main Results:

  • Four genes (ZCCHC4, PDGFB, C18orf54, ATG4B) showed significant associations with sepsis susceptibility.
  • MR analysis supported causal effects of genetically regulated gene expression on sepsis risk.
  • Bayesian colocalization implicated inflammatory and autophagy pathways in sepsis.

Conclusions:

  • Cross-tissue TWAS effectively maps sepsis-associated loci and clarifies genetic architecture.
  • Prioritized genes are promising targets for functional validation and sepsis therapeutics.
  • This research advances the genetic understanding of sepsis susceptibility.