DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome.
DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome.
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DOI：
10.1186/s12883-022-02763-6
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发表时间：
2022-07-19
期刊：
影响因子：
2.6
通讯作者：
Wolfe, Jareth C.
中科院分区：
文献类型：
--
作者：
Devereux-Cooke, Andy;Leary, Sian;McGrath, Simon J.;Northwood, Emma;Redshaw, Anna;Shepherd, Charles;Stacey, Pippa;Tripp, Claire;Wilson, Jim;Mar, Margaret;Boobyer, Danielle;Bromiley, Sam;Chowdhury, Sonya;Dransfield, Claire;Almas, Mohammed;Almelid, Oyvind;Buchanan, David;Garcia, Diana;Ireland, John;Kerr, Shona M.;Lewis, Isabel;McDowall, Ewan;Migdal, Malgorzata;Murray, Phil;Perry, David;Ponting, Chris P.;Vitart, Veronique;Wolfe, Jareth C.
关键词：
肌痛性脑脊髓炎/慢性疲劳综合征（ME/CFS）是一种常见的长期疾病，其特征是运动后不适，通常伴有疲劳，休息后无法显着缓解。ME/CFS没有确诊的诊断测试或有效的治疗，我们缺乏对其原因的了解。确定基因和细胞过程的破坏增加ME/CFS的风险是必要的第一步，发展有效的治疗。在这里，我们描述了DecodeME，这是一项正在进行的研究，由具有ME/CFS生活经验的人和科学家共同制作。我们共同设计了这项研究并获得了资金，现在正在英国招募多达25，000名临床诊断为ME/CFS的人。有资格参加这项研究的人至少16岁，通过国际研究标准，并且没有任何可能导致慢性疲劳的替代诊断。这些将包括5,000人，他们的ME/CFS诊断是SARS-CoV-2感染的结果。问卷可在网上或纸上填写。参与者的唾液DNA样本是通过邮寄获得的，这提高了更多受癌症影响的个人的参与度。数字营销和社交媒体方法使英国ME/CFS的29，000人预先登记了参与兴趣。我们将进行一项全基因组关联研究，将参与者的基因型与英国生物库的基因型进行比较。这将产生关于ME/CFS疾病病因的基因、机制和细胞类型的假设。西北-利物浦中央研究伦理委员会（21/NW/0169）对DecodeME研究进行了审查并给出了赞成意见。有关文件可在网上查阅（www.decodeme.org.uk）。遗传数据将作为相关变异和基因组间隔以及汇总统计数据传播。结果将在DecodeME网站和开放获取出版物上报告。
Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest. ME/CFS has no confirmed diagnostic test or effective treatment and we lack knowledge of its causes. Identification of genes and cellular processes whose disruption adds to ME/CFS risk is a necessary first step towards development of effective therapy. Here we describe DecodeME, an ongoing study co-produced by people with lived experience of ME/CFS and scientists. Together we designed the study and obtained funding and are now recruiting up to 25,000 people in the UK with a clinical diagnosis of ME/CFS. Those eligible for the study are at least 16 years old, pass international study criteria, and lack any alternative diagnoses that can result in chronic fatigue. These will include 5,000 people whose ME/CFS diagnosis was a consequence of SARS-CoV-2 infection. Questionnaires are completed online or on paper. Participants’ saliva DNA samples are acquired by post, which improves participation by more severely-affected individuals. Digital marketing and social media approaches resulted in 29,000 people with ME/CFS in the UK pre-registering their interest in participating. We will perform a genome-wide association study, comparing participants’ genotypes with those from UK Biobank as controls. This should generate hypotheses regarding the genes, mechanisms and cell types contributing to ME/CFS disease aetiology. The DecodeME study has been reviewed and given a favourable opinion by the North West – Liverpool Central Research Ethics Committee (21/NW/0169). Relevant documents will be available online (www.decodeme.org.uk). Genetic data will be disseminated as associated variants and genomic intervals, and as summary statistics. Results will be reported on the DecodeME website and via open access publications.
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影响因子：
64.8
作者：
Bycroft C;Freeman C;Petkova D;Band G;Elliott LT;Sharp K;Motyer A;Vukcevic D;Delaneau O;O'Connell J;Cortes A;Welsh S;Young A;Effingham M;McVean G;Leslie S;Allen N;Donnelly P;Marchini J
通讯作者：
Marchini J
影响因子：
30.8
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Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
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Neale, Benjamin M.
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4.5
作者：
Spencer CC;Su Z;Donnelly P;Marchini J
通讯作者：
Marchini J
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2.6
作者：
Chu, Lily;Valencia, Ian J.;Montoya, Jose G.
通讯作者：
Montoya, Jose G.
影响因子：
7.7
作者：
Smith, Blair H.;Campbell, Archie;Morris, Andrew D.
通讯作者：
Morris, Andrew D.