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Impact of Inherited Genetic Variants on Critically Ill Septic Children

Mariana Miranda1, Simon Nadel2

  • 1Paediatric Unit, Imperial College Healthcare NHS Trust, London W2 1NY, UK.

Pathogens (Basel, Switzerland)
|January 21, 2022
PubMed

Insights

Genomic research offers insights into childhood sepsis susceptibility and treatment. While genetic variations influence sepsis outcomes, personalized genomic medicine for critically ill children is still developing.

Area of Science:

  • Pediatric critical care medicine
  • Genetics and genomics
  • Immunology and inflammation

Background:

  • Sepsis is a major cause of child mortality and morbidity.
  • Standardized care has improved outcomes, but challenges remain.
  • Genomic approaches are increasingly explored for early sepsis recognition and treatment.

Purpose of the Study:

  • To review the host response to infection and sepsis progression.
  • To highlight genetic and genomic studies in pediatric sepsis.
  • To discuss the potential of genomics in tailoring sepsis treatment.

Main Methods:

  • Literature review focusing on gene association studies, epigenetics, and gene expression profiling.
  • Analysis of studies investigating genetic polymorphisms related to inflammation, immunity, and coagulation.
  • Examination of research on gene expression profiling for biomarker and pathway identification.

Main Results:

  • Childhood sepsis susceptibility and outcomes are linked to polymorphisms in immune and coagulation genes.
  • Gene expression profiling is identifying novel biomarkers and therapeutic targets.
  • Genomic subclassification of sepsis is emerging.

Conclusions:

  • Genomics holds promise for personalized sepsis treatment in children.
  • Current genomic applications are not yet widely implemented at the bedside.
  • Further research is needed to translate genomic findings into clinical practice for pediatric sepsis.

Keywords:
childrenepigeneticsgene association studiesgenome-wide expression profilinghost-pathogen responseimmunityinherited genetic variantsphenotypessepsis

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