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

Bala S C Koritala; Sreeja Parameswaran; Omer A Donmez; Carmy Forney; Hope Rowden; Charles A Moore; Angela L Duggins; Alexandra Sestito; Brittany A Leader; Matthew T Weirauch; Leah C Kottyan; David F Smith

doi:10.1016/j.heliyon.2024.e40830

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

Heliyon. 2024 Nov 29;10(23):e40830. doi: 10.1016/j.heliyon.2024.e40830. eCollection 2024 Dec 15.

Authors

Bala S C Koritala^{1

2}, Sreeja Parameswaran³, Omer A Donmez³, Carmy Forney³, Hope Rowden^{3

4}, Charles A Moore², Angela L Duggins¹, Alexandra Sestito¹, Brittany A Leader², Matthew T Weirauch^{3

5

6

7}, Leah C Kottyan^{3

6

8

7}, David F Smith^{1

2

9}

Affiliations

¹ Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
² Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
³ Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁴ Warwick Medical School, University of Warwick, Coventry, UK.
⁵ Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁶ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁷ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
⁸ Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁹ Division of Pulmonary Medicine and the Sleep Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Abstract

Obstructive Sleep Apnea (OSA) is a common sleep-related breathing disorder characterized by airway obstruction during sleep. Diagnosing pediatric OSA is challenging, particularly in underrepresented populations, leading to disparities in treatment and long-term negative health outcomes. Our study aimed to identify alternative diagnostic tools by investigating genome-wide epigenetic changes and associated transcriptomic alterations in Black female, pediatric patients with OSA. Whole-genome bisulfite sequencing and RNA sequencing were performed on saliva samples from healthy controls and children with OSA. Analysis of differential methylation and gene expression patterns revealed dysregulated inflammation and metabolism pathways in children with OSA. Chromosomes 19 and 22 exhibited elevated methylation signatures in this patient population. Integration of methylation and gene expression data identified specific molecular markers, including NAP1L4, CCR1, and LIF. The study emphasizes the need to consider both genetic and environmental factors in pediatric OSA, and the identified markers may offer avenues for further research.