阻塞性睡眠呼吸暂停综合征的表观遗传学：系统评价。
Epigenetics of obstructive sleep apnea syndrome: a systematic review.
机构信息
Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
出版信息
J Clin Sleep Med. 2021 Dec 1;17(12):2533-2541. doi: 10.5664/jcsm.9514.
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 because of 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 OS A-associated differential gene expression, genetic variation, and epigenetic modifications. Although these 65 articles were considered for full manuscript review, only 12 articles met the criteria of OSA-associated epigenetic modifications in human and animal models. Human patients with OSA had unique epigenetic changes compared to healthy control patients 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 the 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.
CITATION
Leader BA, Koritala BSC, Moore CA, Dean EG, Kottyan LC, Smith DF. Epigenetics of obstructive sleep apnea syndrome: a systematic review. 2021;17(12):2533-2541.
研究目的
阻塞性睡眠呼吸暂停（OSA）是一种与多种健康障碍相关的慢性且广泛流行的疾病。目前的 OSA 诊断策略受到成本、时间和获取途径的限制。表观遗传特征可以深入了解疾病与环境之间的关系，并可能在开发 OSA 的诊断和治疗工具方面发挥重要作用。在目前的研究中，进行了系统的文献检索，以调查现有的 OSA 相关表观遗传修饰证据。
方法
使用电子学术数据库（包括 PubMed、CINAHL、Scopus、Embase、EBM Reviews 和 Web of Science）进行了系统的文献检索。然而，本研究重点是筛选与 OSA 相关的表观遗传机制的原创性、英语语言文章。为了产生无偏结果，作者独立进行了筛选。
结果
我们在系统搜索中确定了 2944 篇出版物。其中，有 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。尽管这些 65 篇文章被认为是完整手稿审查的一部分，但只有 12 篇文章符合人类和动物模型中与 OSA 相关的表观遗传修饰标准。与健康对照组患者相比，患有 OSA 的人类患者具有独特的表观遗传变化，有趣的是，在与代谢和炎症途径相关的基因中普遍存在表观遗传特征。
结论
尽管现有研究有限，但这项研究为开发用于 OSA 诊断和治疗的表观遗传标志物提供了新的见解。需要进行全面的全基因组研究，以开发用于识别儿童和成人 OSA 的具有成本效益、稳健的生物标志物。在这里，我们提供了此类研究的设计方案。
引文
Leader BA, Koritala BSC, Moore CA, Dean EG, Kottyan LC, Smith DF. 阻塞性睡眠呼吸暂停综合征的表观遗传学：系统综述。 2021;17(12):2533-2541.
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