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Updated: Jun 6, 2026

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
08:46

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis

Published on: August 12, 2020

Genome-wide association study of paediatric bacteraemia and sepsis

Dylan Lawless1, Flavia Aurelia Hodel2, Christian W Thorball2

  • 1Department of Intensive Care and Neonatology, and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zurich, Switzerland.

Ebiomedicine
|June 4, 2026
PubMed

Insights

Genetic factors may influence a child's risk of developing sepsis, a serious infection. Our study identified a specific gene locus associated with increased susceptibility in children, highlighting potential genetic modulators in sepsis development.

Area of Science:

  • Pediatric critical care medicine
  • Genetics and genomics
  • Infectious diseases

Background:

  • Sepsis is a life-threatening condition characterized by organ dysfunction due to a dysregulated host response to infection.
  • Pediatric sepsis poses a significant global health challenge, yet its underlying genetic and pathophysiological mechanisms are not fully understood.
  • Identifying genetic predispositions is crucial for understanding sepsis etiology and developing targeted interventions.

Purpose of the Study:

  • To investigate the role of genome-wide genetic polymorphisms in pediatric sepsis susceptibility.
  • To explore associations between genetic variations and sepsis disease characteristics in children.
  • To identify specific genetic loci that may modulate the risk of developing sepsis.

Main Methods:

  • Genome-wide association studies (GWAS) were performed on samples from the Swiss Pediatric Sepsis Study cohort.
  • Analyses included within-cohort assessments and a case-control study with 510 sepsis cases and 994 controls.
  • Polymorphisms were tested for association with sepsis susceptibility and, in cases, with disease characteristics.

Main Results:

  • No significant genome-wide associations were detected in the within-cohort analysis for host, microbiological, or outcome features.
  • A case-control analysis revealed one locus significantly associated with sepsis susceptibility.
  • This associated locus encompasses the CTNNAL1 and ELP1 genes, suggesting their potential role in sepsis risk.

Conclusions:

  • The findings suggest that genetic factors play a role in determining susceptibility to sepsis in children.
  • The identified gene locus (CTNNAL1 and ELP1) represents a potential target for further research into the genetic underpinnings of pediatric sepsis.
  • Further investigation is warranted to elucidate the functional mechanisms by which these genes influence sepsis development.
Abstract

Keywords:
BacteraemiaCTNNAL1ELP1Genome-wide association studyPaediatricSepsis

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