The phenotypic and genetic signatures of common musculoskeletal pain conditions.
The phenotypic and genetic signatures of common musculoskeletal pain conditions.
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DOI：
10.1038/nrrheum.2013.43
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发表时间：
2013-06
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影响因子：
--
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中科院分区：
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--
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肌肉骨骼疼痛病症，例如纤维肌痛和腰痛，往往在受影响的个体中同时存在，其特点是报告的疼痛程度比基于标准身体评估结果的预期要严重。这些病症的病理生理学在很大程度上是未知的，我们缺乏用于准确诊断的生物标志物，并且传统疗法的有效性有限。越来越多的证据表明，慢性疼痛与身体和心理触发因素有关，这些触发因素会引发疼痛放大和心理困扰；因此，易感性是由遗传和环境因素之间复杂的相互作用决定的。在此，我们回顾了常见肌肉骨骼疼痛状况的表型和遗传标记，这些标记是根据先前研究中与肌肉骨骼疼痛的关联而选择的。最令人感兴趣的表型标记包括疼痛放大的测量和“心理”测量（例如情绪困扰、躯体意识、社会心理压力和灾难化）。在促进血清素能和肾上腺素能途径的基因中发现了与肌肉骨骼疼痛可重复相关的基因多态性。阐明这些标记物导致这些患者疼痛感知的生物学机制将有助于开发新型有效药物和方法，从而实现更好的诊断和个性化医疗方法。
Musculoskeletal pain conditions, such as fibromyalgia and low back pain, tend to coexist in affected individuals and are characterized by a report of pain greater than expected based on the results of a standard physical evaluation. The pathophysiology of these conditions is largely unknown, we lack biological markers for accurate diagnosis, and conventional therapeutics have limited effectiveness. Growing evidence suggests that chronic pain conditions are associated with both physical and psychological triggers, which initiate pain amplification and psychological distress; thus, susceptibility is dictated by complex interactions between genetic and environmental factors. Herein, we review phenotypic and genetic markers of common musculoskeletal pain conditions, selected based on their association with musculoskeletal pain in previous research. The phenotypic markers of greatest interest include measures of pain amplification and ‘psychological’ measures (such as emotional distress, somatic awareness, psychosocial stress and catastrophizing). Genetic polymorphisms reproducibly linked with musculoskeletal pain are found in genes contributing to serotonergic and adrenergic pathways. Elucidation of the biological mechanisms by which these markers contribute to the perception of pain in these patients will enable the development of novel effective drugs and methodologies that permit better diagnoses and approaches to personalized medicine.
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