Study Objectives:

Obstructive sleep apnea (OSA) is a chronic and widely prevalent disease, associated with multiple health disorders. Current diagnostic strategies for OSA are limited due to cost, time, and access. Epigenetic signatures offer insight into the relationships between disease and environment and could play a significant role in developing both diagnostic and therapeutic tools for OSA. In the current study, a systematic literature search was conducted to investigate the existing evidence of OSA-associated epigenetic modifications.

Methods:

A systematic literature search was performed using electronic academic databases including PubMed, CINAHL, Scopus, Embase, EBM Reviews, and Web of Science. However, the current study focused on screening for original, English language articles pertaining to OSA and associated epigenetic mechanisms. To produce unbiased results, screening was performed independently by authors.

Results:

We identified 2,944 publications in our systematic search. Among them, 65 research articles were related to OSA-associated differential gene expression, genetic variation, and epigenetic modifications. Although these 65 articles were considered for full manuscript review, only twelve articles met the criteria of OSA-associated epigenetic modifications in humans and animal models. Human subjects with OSA had unique epigenetic changes compared to healthy controls, and, interestingly, epigenetic signatures were commonly identified in genes associated with metabolic and inflammatory pathways.

Conclusions:

Although the available studies are limited, this research provides novel insights for development of epigenetic markers for the diagnosis and treatment of OSA. Thorough genome wide investigations will be required to develop cost-effective, robust biomarkers for the identification of OSA among children and adults. Here, we offer a study design for such efforts.

中文翻译：

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阻塞性睡眠呼吸暂停综合征的表观遗传学：系统评价

学习目标：

阻塞性睡眠呼吸暂停 (OSA) 是一种慢性且广泛流行的疾病，与多种健康障碍有关。由于成本、时间和可及性，目前 OSA 的诊断策略受到限制。表观遗传特征提供了对疾病与环境之间关系的洞察力，并可能在开发 OSA 的诊断和治疗工具方面发挥重要作用。在当前的研究中，进行了系统的文献检索以调查 OSA 相关表观遗传修饰的现有证据。

方法：

使用包括 PubMed、CINAHL、Scopus、Embase、EBM Reviews 和 Web of Science 在内的电子学术数据库进行了系统的文献检索。然而，目前的研究侧重于筛选与 OSA 和相关表观遗传机制有关的原创英文文章。为了产生公正的结果，筛选由作者独立进行。

结果：

我们在系统搜索中确定了 2,944 篇出版物。其中，65篇研究文章与OSA相关的差异基因表达、遗传变异和表观遗传修饰有关。尽管这 65 篇文章被考虑进行完整的手稿审查，但只有 12 篇文章符合人类和动物模型中 OSA 相关表观遗传修饰的标准。与健康对照相比，患有 OSA 的人类受试者具有独特的表观遗传变化，而且有趣的是，表观遗传特征通常在与代谢和炎症途径相关的基因中被识别出来。

结论：

尽管可用的研究有限，但这项研究为开发用于诊断和治疗 OSA 的表观遗传标记提供了新的见解。需要进行彻底的全基因组研究，以开发具有成本效益的强大生物标志物，用于识别儿童和成人中的 OSA。在这里，我们为此类努力提供了一个研究设计。