Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science, University of Oxford, Oxford, UK.
Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
J Hand Surg Eur Vol. 2020 Mar;45(3):273-279. doi: 10.1177/1753193419882851. Epub 2019 Oct 30.
It has been suggested that Dupuytren's disease has an origin in Norse countries. We harnessed data from a genome-wide association study of Dupuytren's disease and the People of the British Isles study to determine evidence for a Norse origin of Dupuytren's disease. We computed Wright's Fixation Index between Orkney (Norse ancestry), Wales (ancient British) and South East England (Anglo-Saxons); compared mean Wright's Fixation Index in cases versus controls; used permutation to determine any excess of Norse inheritance in disease associated variants; constructed a genetic risk score for Dupuytren's disease and applied this to the People of the British Isles dataset to look for systematic differences between counties with known high and low levels of Norse ancestry. Finally, chromosome painting was used to see whether Dupuytren's disease-associated single nucleotide polymorphisms are geographically structured. In all analyses, no evidence was found for an excess of Norse ancestry in Dupuytren's disease. We conclude that there is no genetic evidence for a 'Viking origin of Dupuytren's disease'.
有人认为,杜普伊特伦病起源于北欧国家。我们利用杜普伊特伦病的全基因组关联研究和不列颠群岛人群研究的数据,来确定杜普伊特伦病是否起源于北欧。我们计算了奥克尼(北欧血统)、威尔士(古不列颠人)和英格兰东南部(盎格鲁-撒克逊人)之间的 Wright 的固定指数;比较了病例与对照组之间的平均 Wright 的固定指数;使用置换来确定疾病相关变体中是否存在过多的北欧遗传;为杜普伊特伦病构建了一个遗传风险评分,并将其应用于不列颠群岛人群数据集,以观察已知具有高和低北欧血统的县之间是否存在系统差异。最后,使用染色体着色来观察杜普伊特伦病相关的单核苷酸多态性是否存在地理结构。在所有分析中,都没有发现杜普伊特伦病存在过多北欧血统的证据。我们的结论是,没有遗传证据表明杜普伊特伦病具有“维京起源”。