Koritala Bala S C, Parameswaran Sreeja, Donmez Omer A, Forney Carmy, Rowden Hope, Moore Charles A, Duggins Angela L, Sestito Alexandra, Leader Brittany A, Weirauch Matthew T, Kottyan Leah C, Smith David F
Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Heliyon. 2024 Nov 29;10(23):e40830. doi: 10.1016/j.heliyon.2024.e40830. eCollection 2024 Dec 15.
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 , 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.
阻塞性睡眠呼吸暂停（OSA）是一种常见的与睡眠相关的呼吸障碍，其特征是睡眠期间气道阻塞。诊断小儿OSA具有挑战性，尤其是在代表性不足的人群中，这导致治疗差异和长期负面健康结果。我们的研究旨在通过调查患有OSA的黑人女性儿科患者的全基因组表观遗传变化和相关的转录组改变来确定替代诊断工具。对健康对照和OSA儿童的唾液样本进行了全基因组亚硫酸氢盐测序和RNA测序。差异甲基化和基因表达模式分析揭示了OSA儿童炎症和代谢途径失调。在该患者群体中，19号和22号染色体表现出升高的甲基化特征。甲基化和基因表达数据的整合确定了特定的分子标记，包括 该研究强调在小儿OSA中需要同时考虑遗传和环境因素，并且所确定的标记可能为进一步研究提供途径。
