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Updated: Apr 27, 2026

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
Published on: August 12, 2020
Genetic polymorphisms and sepsis in premature neonates
Susanna Esposito1, Alberto Zampiero1, Lorenza Pugni2
1Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Genetic variations in genes like IL1β and MMP-16 increase neonatal sepsis risk, while BPI and DEFβ1 gene variants decrease it. These single nucleotide polymorphisms (SNPs) influence susceptibility and severity in preterm infants.
Area of Science:
- Genetics
- Neonatology
- Infectious Diseases
Background:
- Neonatal sepsis is a significant cause of mortality and morbidity in preterm infants.
- Understanding the genetic factors influencing sepsis susceptibility is crucial for improving outcomes.
- Previous studies suggest a role for genetic polymorphisms in the immune response to pathogens.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in candidate genes and the risk of sepsis in preterm neonates.
- To explore the relationship between specific gene variants and the severity of sepsis, as well as susceptibility to Gram-negative infections.
Main Methods:
- Genotyping of 47 SNPs in 18 candidate genes using ABI PRISM 7900 HT Fast real-time and MassARRAY platforms on Guthrie cards.
- Study included 101 preterm neonates with microbiologically confirmed sepsis, 98 with clinical sepsis, and 100 healthy controls.
- Statistical analysis to determine associations between genotypes and sepsis risk, severity, and pathogen type.
Main Results:
- Specific genotypes of IL1β (rs1143643) and MMP-16 (rs2664349) were linked to increased overall sepsis risk.
- BPI (rs4358188) and DEFβ1 (rs1799946) gene variants were associated with a reduced risk of sepsis.
- CD14 (rs2569190) and IL8 (rs4073) SNPs correlated with increased severe sepsis risk, while LTA (rs1800629) and BPI (rs1341023) variants were associated with Gram-negative sepsis risk.
Conclusions:
- Genetic variability plays a significant role in the susceptibility and severity of sepsis in preterm neonates.
- Identifying specific SNPs can help predict sepsis risk and guide targeted interventions.
- Further research is warranted to elucidate the precise mechanisms by which these genetic factors influence neonatal sepsis.
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Principles of Pharmacogenetics: Types of Genetic Variants
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Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
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