van Hecke Oliver, Kamerman Peter R, Attal Nadine, Baron Ralf, Bjornsdottir Gyda, Bennett David L H, Bennett Michael I, Bouhassira Didier, Diatchenko Luda, Freeman Roy, Freynhagen Rainer, Haanpää Maija, Jensen Troels S, Raja Srinivasa N, Rice Andrew S C, Seltzer Ze'ev, Thorgeirsson Thorgeir E, Yarnitsky David, Smith Blair H
Division of Population Health Sciences, University of Dundee, Dundee, Scotland, United Kingdom Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, CHU Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France Université Versailles Saint-Quentin, Versailles, France Division of Neurological Pain Research and Therapy, Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany deCODE Genetics/Amgen, Reykjavík, Iceland Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom Academic Unit of Palliative Care, Leeds Institute of Health Sciences, University of Leeds, Leeds, United Kingdom The Alan Edwards Centre for Research on Pain, McGill University, Montreal, Canada Department of Neurology, Beth Israel Deaconess Medical Centre, Harvard Medical School, Boston, USA Zentrum für Anästhesiologie, Intensivmedizin, Schmerztherapie und Palliativmedizin, Benedictus Krankenhaus, Tutzing, Germany Klinik für Anästhesiologie, Technische Universität München, München, Germany Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland Mutual Insurance Company Etera, Helsinki, Finland Department of Clinical Medicine, Danish Pain Research Center, Aarhus University, Aarhus, Denmark Department of Neurology, Aarhus University Hospital, Aarhus, Denmark Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University, School of Medicine, Baltimore, USA Pain Research, Department of Surgery and Cancer, Faculty of Medicine, Imperial College, Chelsea and Westminster Hospital campus, London, United Kingdom Pain Phenomics and Genomics Lab, University of Toronto Centre for the Study of Pain, University of Toronto, Toronto, Canada Department of Neurology, Technion Faculty of Medicine, Rambam Health Care Campus, Haifa, Israel (O. van Hecke is now with Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, United Kingdom).
Pain. 2015 Nov;156(11):2337-2353. doi: 10.1097/j.pain.0000000000000335.
For genetic research to contribute more fully to furthering our knowledge of neuropathic pain, we require an agreed, valid, and feasible approach to phenotyping, to allow collaboration and replication in samples of sufficient size. Results from genetic studies on neuropathic pain have been inconsistent and have met with replication difficulties, in part because of differences in phenotypes used for case ascertainment. Because there is no consensus on the nature of these phenotypes, nor on the methods of collecting them, this study aimed to provide guidelines on collecting and reporting phenotypes in cases and controls for genetic studies. Consensus was achieved through a staged approach: (1) systematic literature review to identify all neuropathic pain phenotypes used in previous genetic studies; (2) Delphi survey to identify the most useful neuropathic pain phenotypes and their validity and feasibility; and (3) meeting of experts to reach consensus on the optimal phenotype(s) to be collected from patients with neuropathic pain for genetic studies. A basic "entry level" set of phenotypes was identified for any genetic study of neuropathic pain. This set identifies cases of "possible" neuropathic pain, and controls, and includes: (1) a validated symptom-based questionnaire to determine whether any pain is likely to be neuropathic; (2) body chart or checklist to identify whether the area of pain distribution is neuroanatomically logical; and (3) details of pain history (intensity, duration, any formal diagnosis). This NeuroPPIC "entry level" set of phenotypes can be expanded by more extensive and specific measures, as determined by scientific requirements and resource availability.
为了使基因研究能更全面地促进我们对神经性疼痛的了解，我们需要一种商定的、有效的且可行的表型分析方法，以便在足够大的样本中进行协作和重复研究。神经性疼痛基因研究的结果一直不一致，并且在重复研究时遇到困难，部分原因是病例确定所使用的表型存在差异。由于对于这些表型的性质以及收集方法没有达成共识，本研究旨在为基因研究中病例和对照的表型收集及报告提供指导方针。通过分阶段方法达成了共识：（1）系统的文献综述，以确定先前基因研究中使用的所有神经性疼痛表型；（2）德尔菲调查，以确定最有用的神经性疼痛表型及其有效性和可行性；（3）专家会议，就从神经性疼痛患者中收集用于基因研究的最佳表型达成共识。为任何神经性疼痛的基因研究确定了一组基本的“入门级”表型。这组表型用于确定“可能的”神经性疼痛病例和对照，包括：（1）一份经过验证的基于症状的问卷，以确定任何疼痛是否可能是神经性的；（2）身体图表或清单，以确定疼痛分布区域在神经解剖学上是否合理；（3）疼痛病史细节（强度、持续时间、任何正式诊断）。这个NeuroPPIC“入门级”表型集可以根据科学要求和资源可用性，通过更广泛和具体的措施进行扩展。
