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Genome-wide epigenetic profiling and transcriptome analysis in pediatric Obstructive Sleep Apnea: A focus on Black

Bala S C Koritala1,2, Sreeja Parameswaran3, Omer A Donmez3

  • 1Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Heliyon
|December 24, 2024
PubMed

Insights

This study explored epigenetic and transcriptomic changes in Black girls with obstructive sleep apnea (OSA). Identified molecular markers like NAP1L4 may aid in diagnosing this common breathing disorder.

Area of Science:

  • Genomics
  • Epigenetics
  • Pediatric Sleep Medicine

Background:

  • Obstructive sleep apnea (OSA) is a prevalent sleep disorder with diagnostic challenges in children, especially in underrepresented groups.
  • Diagnostic disparities in pediatric OSA contribute to adverse health outcomes.
  • Investigating molecular markers can improve diagnosis and treatment for pediatric OSA.

Purpose of the Study:

  • To identify alternative diagnostic tools for pediatric obstructive sleep apnea (OSA).
  • To investigate genome-wide epigenetic and transcriptomic alterations in Black female pediatric patients with OSA.
  • To explore potential molecular markers for improved diagnosis and understanding of pediatric OSA.

Main Methods:

  • Whole-genome bisulfite sequencing and RNA sequencing were performed on saliva samples.
  • Analysis included differential methylation and gene expression patterns.
  • Data integration identified specific molecular markers associated with pediatric OSA.

Main Results:

  • Dysregulated inflammation and metabolism pathways were observed in children with OSA.
  • Elevated methylation signatures were found on chromosomes 19 and 22.
  • Specific molecular markers, including NAP1L4, CCR1, and LIF, were identified.

Conclusions:

  • The study highlights the importance of considering genetic and environmental factors in pediatric OSA.
  • Identified molecular markers (NAP1L4, CCR1, LIF) show promise for future research and potential diagnostic applications.
  • Further investigation into these markers could lead to improved diagnostic strategies for pediatric OSA.

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