Big data, big consortia, and pain: UK Biobank, PAINSTORM, and DOLORisk.
Big data, big consortia, and pain: UK Biobank, PAINSTORM, and DOLORisk.
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DOI：
10.1097/pr9.0000000000001086
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发表时间：
2023-09
期刊：
影响因子：
4.8
通讯作者：
中科院分区：
文献类型：
--
作者：
目前在理解慢性疼痛发病机制方面的挑战正在通过建立大型财团和生物储存库来克服，这些财团和生物储存库具有协调的表型分型方法。慢性疼痛（CP）是一种常见的，往往使人衰弱的疾病，具有重大的社会和经济影响。一部分患者发生CP，严重干扰他们的日常生活活动，需要高水平的医疗支持。治疗医生面临的挑战是预防难治性CP的发作或有效地管理现有的疼痛。为了能够做到这一点，有必要了解遗传和环境的风险因素，CP的发病和对治疗的反应，以及高度异质性的疾病的发病机制。然而，CP的研究，特别是具有神经病理特征的疼痛，由于缺乏表型和数据收集方面的共识而受到阻碍，使得比较困难。此外，现有的队列样本量小，这意味着分析，特别是全基因组关联研究，没有足够的动力。克服这些问题的关键是通过创建大型联盟，如DOLORisk和PANORRM以及生物储存库，如UK Biobank，其中可以采用通用方法进行CP表型分析，这允许不同队列之间的协调，从而提高研究能力。这篇综述描述了用于研究神经性疼痛的DOLORisk的方法，以及这是如何告知目前的项目，如PANOMORM，英国生物银行的rephenotyping，和其他努力。此外，还概述了这些研究的成果以及为今后的项目吸取的经验教训。
Current challenges in understanding chronic pain pathogenesis are being overcome by the creation of large consortia and biorepositories with a harmonised approach to phenotyping. Chronic pain (CP) is a common and often debilitating disorder that has major social and economic impacts. A subset of patients develop CP that significantly interferes with their activities of daily living and requires a high level of healthcare support. The challenge for treating physicians is in preventing the onset of refractory CP or effectively managing existing pain. To be able to do this, it is necessary to understand the risk factors, both genetic and environmental, for the onset of CP and response to treatment, as well as the pathogenesis of the disorder, which is highly heterogenous. However, studies of CP, particularly pain with neuropathic characteristics, have been hindered by a lack of consensus on phenotyping and data collection, making comparisons difficult. Furthermore, existing cohorts have suffered from small sample sizes meaning that analyses, especially genome-wide association studies, are insufficiently powered. The key to overcoming these issues is through the creation of large consortia such as DOLORisk and PAINSTORM and biorepositories, such as UK Biobank, where a common approach can be taken to CP phenotyping, which allows harmonisation across different cohorts and in turn increased study power. This review describes the approach that was used for studying neuropathic pain in DOLORisk and how this has informed current projects such as PAINSTORM, the rephenotyping of UK Biobank, and other endeavours. Moreover, an overview is provided of the outputs from these studies and the lessons learnt for future projects.
影响因子：
4.4
作者：
Patasova K;Khawaja AP;Tamraz B;Williams KM;Mahroo OA;Freidin M;Solebo AL;Vehof J;Falchi M;Rahi JS;Hammond CJ;Hysi PG
通讯作者：
Hysi PG
影响因子：
2.9
作者：
Hébert HL;Veluchamy A;Baskozos G;Fardo F;Van Ryckeghem DML;Pascal MMV;Jones C;Milburn K;Pearson ER;Crombez G;Bennett DLH;Meng W;Palmer CNA;Smith BH
通讯作者：
Smith BH