{"title":"中国汉族慢性失眠症患者的全基因组甲基化分析。","authors":"Xiao Li, Xue Meng, Rong-Rong Zhao, Ya-Hui Xu","doi":"10.1007/s11325-024-03145-7","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>As the most common sleep disorder, chronic insomnia disorder (CID) has become a global health burden to the public. However, it remains unclear about the pathogenesis of this disease. Epigenetic changes may provide important insights into the gene-environment interaction in CID. Therefore, this study was conducted to investigate the DNA methylation pattern in CID and reveal the epigenetic mechanism of this disease.</p><p><strong>Methods: </strong>In this study, whole blood DNA was extracted from 8 CID patients (the CID group) and 8 healthy controls (the control group), respectively. Besides, genome-wide DNA methylation was detected by Illumina Human Methylation 850 K Beadchip. Moreover, the sleep quality and insomnia severity were evaluated by the Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI), respectively.</p><p><strong>Results: </strong>A total of 369 differentially methylated positions (DMPs) and 23 differentially methylated regions (DMRs) were identified between the CID and control groups. LHX6 was identified as the most important differentially methylated gene (DMG). The Gene Ontology (GO) analysis results corroborated that DMPs were significantly enriched in 105 GO terms, including cell signaling, homogenous cell adhesion of plasma membrane adhesion molecules, nervous system development, cell adhesion, and calcium ion binding. In addition, it was demonstrated that DMPs were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, including the hippo signaling pathway, Ras signaling pathway, and vitamin B6 metabolism. The DMR-related GO analysis results revealed the positive regulation of protein kinase activities.</p><p><strong>Conclusions: </strong>DNA methylation plays a critical role in the development of CID, and LHX6 is validated to be an important DMG.</p>","PeriodicalId":21862,"journal":{"name":"Sleep and Breathing","volume":" ","pages":"2397-2407"},"PeriodicalIF":2.1000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A genome-wide methylation analysis of Chinese Han patients with chronic insomnia disorder.\",\"authors\":\"Xiao Li, Xue Meng, Rong-Rong Zhao, Ya-Hui Xu\",\"doi\":\"10.1007/s11325-024-03145-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>As the most common sleep disorder, chronic insomnia disorder (CID) has become a global health burden to the public. However, it remains unclear about the pathogenesis of this disease. Epigenetic changes may provide important insights into the gene-environment interaction in CID. Therefore, this study was conducted to investigate the DNA methylation pattern in CID and reveal the epigenetic mechanism of this disease.</p><p><strong>Methods: </strong>In this study, whole blood DNA was extracted from 8 CID patients (the CID group) and 8 healthy controls (the control group), respectively. Besides, genome-wide DNA methylation was detected by Illumina Human Methylation 850 K Beadchip. Moreover, the sleep quality and insomnia severity were evaluated by the Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI), respectively.</p><p><strong>Results: </strong>A total of 369 differentially methylated positions (DMPs) and 23 differentially methylated regions (DMRs) were identified between the CID and control groups. LHX6 was identified as the most important differentially methylated gene (DMG). The Gene Ontology (GO) analysis results corroborated that DMPs were significantly enriched in 105 GO terms, including cell signaling, homogenous cell adhesion of plasma membrane adhesion molecules, nervous system development, cell adhesion, and calcium ion binding. In addition, it was demonstrated that DMPs were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, including the hippo signaling pathway, Ras signaling pathway, and vitamin B6 metabolism. The DMR-related GO analysis results revealed the positive regulation of protein kinase activities.</p><p><strong>Conclusions: </strong>DNA methylation plays a critical role in the development of CID, and LHX6 is validated to be an important DMG.</p>\",\"PeriodicalId\":21862,\"journal\":{\"name\":\"Sleep and Breathing\",\"volume\":\" \",\"pages\":\"2397-2407\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sleep and Breathing\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s11325-024-03145-7\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sleep and Breathing","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11325-024-03145-7","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/26 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景：作为最常见的睡眠障碍，慢性失眠症（CID）已成为全球公众的健康负担。然而，该疾病的发病机制仍不清楚。表观遗传学变化可能为了解 CID 中基因与环境的相互作用提供了重要线索。因此，本研究旨在调查 CID 的 DNA 甲基化模式，揭示该疾病的表观遗传学机制：方法：本研究分别从 8 名 CID 患者（CID 组）和 8 名健康对照者（对照组）中提取全血 DNA。此外，利用Illumina Human Methylation 850 K Beadchip检测全基因组DNA甲基化。此外，还分别用匹兹堡睡眠质量指数（PSQI）和失眠严重程度指数（ISI）评估了睡眠质量和失眠严重程度：结果：在CID组和对照组之间共发现了369个差异甲基化位点（DMPs）和23个差异甲基化区域（DMRs）。LHX6被确定为最重要的差异甲基化基因（DMG）。基因本体（Gene Ontology，GO）分析结果证实，DMPs在105个GO术语中显著富集，包括细胞信号传导、质膜粘附分子的同源细胞粘附、神经系统发育、细胞粘附和钙离子结合。此外，研究还表明，DMPs在《京都基因和基因组百科全书》（KEGG）通路中也有明显的富集，包括河马信号通路、Ras信号通路和维生素B6代谢。DMR相关的GO分析结果显示了对蛋白激酶活性的正向调控：DNA甲基化在CID的发病过程中起着关键作用，而LHX6被证实是一种重要的DMG。
A genome-wide methylation analysis of Chinese Han patients with chronic insomnia disorder.
Background: As the most common sleep disorder, chronic insomnia disorder (CID) has become a global health burden to the public. However, it remains unclear about the pathogenesis of this disease. Epigenetic changes may provide important insights into the gene-environment interaction in CID. Therefore, this study was conducted to investigate the DNA methylation pattern in CID and reveal the epigenetic mechanism of this disease.
Methods: In this study, whole blood DNA was extracted from 8 CID patients (the CID group) and 8 healthy controls (the control group), respectively. Besides, genome-wide DNA methylation was detected by Illumina Human Methylation 850 K Beadchip. Moreover, the sleep quality and insomnia severity were evaluated by the Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI), respectively.
Results: A total of 369 differentially methylated positions (DMPs) and 23 differentially methylated regions (DMRs) were identified between the CID and control groups. LHX6 was identified as the most important differentially methylated gene (DMG). The Gene Ontology (GO) analysis results corroborated that DMPs were significantly enriched in 105 GO terms, including cell signaling, homogenous cell adhesion of plasma membrane adhesion molecules, nervous system development, cell adhesion, and calcium ion binding. In addition, it was demonstrated that DMPs were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, including the hippo signaling pathway, Ras signaling pathway, and vitamin B6 metabolism. The DMR-related GO analysis results revealed the positive regulation of protein kinase activities.
Conclusions: DNA methylation plays a critical role in the development of CID, and LHX6 is validated to be an important DMG.
期刊介绍：
The journal Sleep and Breathing aims to reflect the state of the art in the international science and practice of sleep medicine. The journal is based on the recognition that management of sleep disorders requires a multi-disciplinary approach and diverse perspectives. The initial focus of Sleep and Breathing is on timely and original studies that collect, intervene, or otherwise inform all clinicians and scientists in medicine, dentistry and oral surgery, otolaryngology, and epidemiology on the management of the upper airway during sleep.
Furthermore, Sleep and Breathing endeavors to bring readers cutting edge information about all evolving aspects of common sleep disorders or disruptions, such as insomnia and shift work. The journal includes not only patient studies, but also studies that emphasize the principles of physiology and pathophysiology or illustrate potentially novel approaches to diagnosis and treatment. In addition, the journal features articles that describe patient-oriented and cost-benefit health outcomes research. Thus, with peer review by an international Editorial Board and prompt English-language publication, Sleep and Breathing provides rapid dissemination of clinical and clinically related scientific information. But it also does more: it is dedicated to making the most important developments in sleep disordered breathing easily accessible to clinicians who are treating sleep apnea by presenting well-chosen, well-written, and highly organized information that is useful for patient care.
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