纤维肌痛:遗传学和表观遗传学的研究进展可能为诊断生物标志物的开发提供依据。

Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers.

机构信息

1 Anesthesiology, Critical Care and Pain Medicine Division, Department of Medicine and Surgery, University of Parma, Parma, Italy.

2 Department of Health Science and Technology, Aalborg University, Denmark.

出版信息

Mol Pain. 2019 Jan-Dec;15:1744806918819944. doi: 10.1177/1744806918819944. Epub 2018 Nov 29.

Abstract

Fibromyalgia is a disease characterized by chronic widespread pain with additional symptoms, such as joint stiffness, fatigue, sleep disturbance, cognitive dysfunction, and depression. Currently, fibromyalgia diagnosis is based exclusively on a comprehensive clinical assessment, according to 2016 ACR criteria, but validated biological biomarkers associated with fibromyalgia have not yet been identified. Genome-wide association studies investigated genes potentially involved in fibromyalgia pathogenesis highlighting that genetic factors are possibly responsible for up to 50% of the disease susceptibility. Potential candidate genes found associated to fibromyalgia are SLC64A4, TRPV2, MYT1L, and NRXN3. Furthermore, a gene-environmental interaction has been proposed as triggering mechanism, through epigenetic alterations: In particular, fibromyalgia appears to be characterized by a hypomethylated DNA pattern, in genes implicated in stress response, DNA repair, autonomic system response, and subcortical neuronal abnormalities. Differences in the genome-wide expression profile of microRNAs were found among multiple tissues, indicating the involvement of distinct processes in fibromyalgia pathogenesis. Further studies should be dedicated to strength these preliminary findings, in larger multicenter cohorts, to identify reliable directions for biomarker research and clinical practice.

摘要

纤维肌痛是一种以慢性广泛性疼痛为特征的疾病,伴有其他症状,如关节僵硬、疲劳、睡眠障碍、认知功能障碍和抑郁。目前,纤维肌痛的诊断完全基于 2016 年 ACR 标准的综合临床评估,但尚未确定与纤维肌痛相关的经过验证的生物标志物。全基因组关联研究调查了可能参与纤维肌痛发病机制的基因,突出表明遗传因素可能导致多达 50%的疾病易感性。与纤维肌痛相关的潜在候选基因包括 SLC64A4、TRPV2、MYT1L 和 NRXN3。此外,已经提出了基因-环境相互作用作为触发机制,通过表观遗传改变:特别是,纤维肌痛似乎表现为应激反应、DNA 修复、自主神经系统反应和皮质下神经元异常相关基因的低甲基化 DNA 模式。在多个组织中发现了 microRNAs 的全基因组表达谱存在差异,表明在纤维肌痛发病机制中涉及不同的过程。应该进行更多的研究来加强这些初步发现,在更大的多中心队列中,以确定生物标志物研究和临床实践的可靠方向。

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