Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Brisbane, Queensland 4059, Australia.
Center for Pain and the Brain, Boston Children's Hospital, 1 Autumn Street, Boston, Massachusetts 02115, USA.
Nat Rev Neurol. 2017 Dec;13(12):725-741. doi: 10.1038/nrneurol.2017.151. Epub 2017 Nov 17.
Migraine is one of the world's most prevalent and disabling disorders and imposes an enormous socioeconomic burden. The exact causes of migraine are unknown, and no recognizable diagnostic pathological changes have been identified. Specific identifiable markers of migraine would aid diagnosis and could provide insight into the pathogenesis of the condition, with the potential to direct development of new therapeutics. In the past few years, advances in neuroimaging and genetic studies have provided the most substantial progress towards the identification of markers. A growing number of brain imaging studies have provided important insights into the brain mechanisms that underlie migraine symptoms during and between migraine attacks. Similarly, large-scale genome-wide association studies have identified genetic variants associated with the common forms of migraine - migraine with aura and migraine without aura. In total, 44 independent single-nucleotide polymorphism loci have been robustly associated with the risk of migraine and provide new evidence for the involvement of vascular mechanisms. Both imaging and genetics, therefore, have excellent potential as markers of migraine. In this Review, we provide a summary of results regarding current and potential neuroimaging and genetic markers of migraine, consider what conclusions can be drawn from these markers about migraine mechanisms and discuss the potential of combining imaging and genetics.
偏头痛是世界上最常见和致残的疾病之一，给社会经济带来了巨大负担。偏头痛的确切病因尚不清楚，也没有发现可识别的诊断性病理变化。偏头痛的特定可识别标志物有助于诊断，并可能深入了解该疾病的发病机制，有可能指导新疗法的开发。在过去几年中，神经影像学和遗传学研究的进展为确定标志物提供了最大的进展。越来越多的脑成像研究为偏头痛发作期间和发作之间偏头痛症状的大脑机制提供了重要的见解。同样，大规模全基因组关联研究也确定了与常见偏头痛形式（有先兆偏头痛和无先兆偏头痛）相关的遗传变异。总共，有 44 个独立的单核苷酸多态性位点与偏头痛的风险显著相关，并为血管机制的参与提供了新的证据。因此，影像学和遗传学都具有成为偏头痛标志物的巨大潜力。在这篇综述中，我们总结了偏头痛的当前和潜在神经影像学和遗传学标志物的研究结果，考虑了这些标志物可以得出关于偏头痛机制的哪些结论，并讨论了将影像学和遗传学相结合的潜力。
