{"title":"HTR2A DNA甲基化作为类风湿关节炎的诊断生物标志物:一项使用靶向测序的验证研究","authors":"Jianan Zhao, Binghen He, Yunshen Li, Yu Shan, Kai Wei, Ping Jiang, Yiming Shi, Yixin Zheng, Fuyu Zhao, Guizhen Yang, Qianqian Li, Mi Zhou, Shicheng Guo, Yuejuan Zheng, Juan Jiao, Rongsheng Wang, Cen Chang, Liangjing Lv","doi":"10.1080/17501911.2025.2523231","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To validate the potential of the serotonin receptor encoded by 5-hydroxytryptamine receptor 2A (HTR2A) cg15692052 DNA methylation as a diagnostic biomarker for rheumatoid arthritis (RA) and its subtypes.</p><p><strong>Methods: </strong>MethylTarget<sup>TM</sup> targeted region methylation sequencing technology was employed to analyze the DNA methylation levels of HTR2A cg15692052 in RA, health control, ankylosing spondylitis, psoriatic arthritis, gout, systemic lupus erythematosus, dermatomyositis, and primary Sjögren's syndrome patients within the region of chr13:46898190~chr13:46897976. Machine learning algorithms were used to analyze data.</p><p><strong>Results: </strong>Compared to the HC group, RA patients and four serological subtypes of RA (RF-negative RA, RF/CCP double-positive, RF/CCP double-negative, and CCP-negative RA) exhibited significantly higher levels of <i>HTR2A</i> cg15692052 methylation (<i>p</i> < 0.05). Methylation levels in RA patients and its four serological subtypes were significantly positively correlated with erythrocyte sedimentation rate or C-reactive protein (<i>p</i> < 0.05). <i>HTR2A</i> cg15692052 methylation levels combined with different clinical features can significantly distinguish RA patients with AUCs ranging from 0.672 to 0.757, RF/CCP double-negative patients with AUCs from 0.825 to 0.966, RF/CCP double-positive RA patients with AUCs from 0.714 to 0.846, and RF-negative RA patients with AUCs from 0.928 to 0.932.</p><p><strong>Conclusions: </strong>The <i>HTR2A</i> cg15692052 DNA methylation level can serve as a diagnostic biomarker for RA and its subtypes.</p>","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1-11"},"PeriodicalIF":2.6000,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>HTR2A</i> DNA methylation as a diagnostic biomarker for rheumatoid arthritis: a validation study using targeted sequencing.\",\"authors\":\"Jianan Zhao, Binghen He, Yunshen Li, Yu Shan, Kai Wei, Ping Jiang, Yiming Shi, Yixin Zheng, Fuyu Zhao, Guizhen Yang, Qianqian Li, Mi Zhou, Shicheng Guo, Yuejuan Zheng, Juan Jiao, Rongsheng Wang, Cen Chang, Liangjing Lv\",\"doi\":\"10.1080/17501911.2025.2523231\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To validate the potential of the serotonin receptor encoded by 5-hydroxytryptamine receptor 2A (HTR2A) cg15692052 DNA methylation as a diagnostic biomarker for rheumatoid arthritis (RA) and its subtypes.</p><p><strong>Methods: </strong>MethylTarget<sup>TM</sup> targeted region methylation sequencing technology was employed to analyze the DNA methylation levels of HTR2A cg15692052 in RA, health control, ankylosing spondylitis, psoriatic arthritis, gout, systemic lupus erythematosus, dermatomyositis, and primary Sjögren's syndrome patients within the region of chr13:46898190~chr13:46897976. Machine learning algorithms were used to analyze data.</p><p><strong>Results: </strong>Compared to the HC group, RA patients and four serological subtypes of RA (RF-negative RA, RF/CCP double-positive, RF/CCP double-negative, and CCP-negative RA) exhibited significantly higher levels of <i>HTR2A</i> cg15692052 methylation (<i>p</i> < 0.05). Methylation levels in RA patients and its four serological subtypes were significantly positively correlated with erythrocyte sedimentation rate or C-reactive protein (<i>p</i> < 0.05). <i>HTR2A</i> cg15692052 methylation levels combined with different clinical features can significantly distinguish RA patients with AUCs ranging from 0.672 to 0.757, RF/CCP double-negative patients with AUCs from 0.825 to 0.966, RF/CCP double-positive RA patients with AUCs from 0.714 to 0.846, and RF-negative RA patients with AUCs from 0.928 to 0.932.</p><p><strong>Conclusions: </strong>The <i>HTR2A</i> cg15692052 DNA methylation level can serve as a diagnostic biomarker for RA and its subtypes.</p>\",\"PeriodicalId\":11959,\"journal\":{\"name\":\"Epigenomics\",\"volume\":\" \",\"pages\":\"1-11\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-06-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epigenomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/17501911.2025.2523231\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epigenomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/17501911.2025.2523231","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
HTR2A DNA methylation as a diagnostic biomarker for rheumatoid arthritis: a validation study using targeted sequencing.
Objectives: To validate the potential of the serotonin receptor encoded by 5-hydroxytryptamine receptor 2A (HTR2A) cg15692052 DNA methylation as a diagnostic biomarker for rheumatoid arthritis (RA) and its subtypes.
Methods: MethylTargetTM targeted region methylation sequencing technology was employed to analyze the DNA methylation levels of HTR2A cg15692052 in RA, health control, ankylosing spondylitis, psoriatic arthritis, gout, systemic lupus erythematosus, dermatomyositis, and primary Sjögren's syndrome patients within the region of chr13:46898190~chr13:46897976. Machine learning algorithms were used to analyze data.
Results: Compared to the HC group, RA patients and four serological subtypes of RA (RF-negative RA, RF/CCP double-positive, RF/CCP double-negative, and CCP-negative RA) exhibited significantly higher levels of HTR2A cg15692052 methylation (p < 0.05). Methylation levels in RA patients and its four serological subtypes were significantly positively correlated with erythrocyte sedimentation rate or C-reactive protein (p < 0.05). HTR2A cg15692052 methylation levels combined with different clinical features can significantly distinguish RA patients with AUCs ranging from 0.672 to 0.757, RF/CCP double-negative patients with AUCs from 0.825 to 0.966, RF/CCP double-positive RA patients with AUCs from 0.714 to 0.846, and RF-negative RA patients with AUCs from 0.928 to 0.932.
Conclusions: The HTR2A cg15692052 DNA methylation level can serve as a diagnostic biomarker for RA and its subtypes.
期刊介绍:
Epigenomics provides the forum to address the rapidly progressing research developments in this ever-expanding field; to report on the major challenges ahead and critical advances that are propelling the science forward. The journal delivers this information in concise, at-a-glance article formats – invaluable to a time constrained community.
Substantial developments in our current knowledge and understanding of genomics and epigenetics are constantly being made, yet this field is still in its infancy. Epigenomics provides a critical overview of the latest and most significant advances as they unfold and explores their potential application in the clinical setting.