TNF-α gene polymorphisms and excessive daytime sleepiness in pediatric obstructive sleep apnea

Abdelnaby Khalyfa1, Laura D Serpero, Leila Kheirandish-Gozal

  • 1Section of Pediatric Sleep Medicine, Department of Pediatrics, Pritzker School of Medicine, University of Chicago, Chicago, IL, USA.

The Journal of Pediatrics
|September 18, 2010
PubMed

Insights

Obstructive sleep apnea (OSA) in children is linked to higher tumor necrosis factor-alpha (TNF-α) levels and sleepiness, especially with the TNF-α -308G gene variant. This genetic factor may explain sleepiness variability in pediatric OSA.

Area of Science:

  • Pediatric Sleep Medicine
  • Immunogenetics
  • Molecular Biology

Background:

  • Obstructive sleep apnea (OSA) is a common pediatric disorder.
  • Tumor necrosis factor-alpha (TNF-α) is an inflammatory cytokine implicated in various conditions.
  • Genetic variations in inflammatory pathways may influence OSA severity and symptoms.

Purpose of the Study:

  • To investigate the relationship between sleepiness, TNF-α plasma levels, and TNF-α gene polymorphisms in children with OSA.
  • To determine if specific TNF-α gene variants are associated with increased sleepiness or elevated TNF-α levels in pediatric OSA.

Main Methods:

  • A case-control study involving children evaluated for OSA (n=60) and matched controls (n=80).
  • Assessment of sleepiness using the modified Epworth Sleepiness Scale (ESS).
  • Measurement of TNF-α plasma concentrations via ELISA and genotyping of TNF-α single nucleotide polymorphisms (SNPs) using real-time PCR.

Main Results:

  • Children with OSA exhibited higher morning TNF-α levels and ESS scores compared to controls.
  • Significant variability in TNF-α levels and sleepiness was observed within the OSA group.
  • The TNF-α -308G gene polymorphism was strongly associated with increased TNF-α plasma levels and excessive daytime sleepiness in children with OSA.

Conclusions:

  • Elevated TNF-α levels and increased sleepiness are present in a subset of children with OSA.
  • The TNF-α -308G polymorphism is a key factor contributing to increased TNF-α and sleepiness in pediatric OSA.
  • Genetic variations, specifically the TNF-α -308G SNP, may explain the considerable variability in excessive daytime sleepiness observed in pediatric OSA.
Abstract

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