当前位置: X-MOL 学术Hum. Mol. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Genetic Risk Factors of ME/CFS: A Critical Review.
Human Molecular Genetics ( IF 3.5 ) Pub Date : 2020-08-03 , DOI: 10.1093/hmg/ddaa169
Joshua J Dibble 1 , Simon J McGrath 2 , Chris P Ponting 1
Affiliation  

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex multisystem illness that lacks effective therapy and a biomedical understanding of its causes. Despite a prevalence of ∼0.2–0.4% and its high public health burden, and evidence that it has a heritable component, ME/CFS has not yet benefited from the advances in technology and analytical tools that have improved our understanding of many other complex diseases. Here we critically review existing evidence that genetic factors alter ME/CFS risk before concluding that most ME/CFS candidate gene associations are not replicated by the larger CFS cohort within the UK Biobank. Multiple genome-wide association studies of this cohort also have not yielded consistently significant associations. Ahead of upcoming larger genome-wide association studies, we discuss how these could generate new lines of enquiry into the DNA variants, genes and cell types that are causally involved in ME/CFS disease.

中文翻译:

ME/CFS 的遗传风险因素:批判性审查。

肌痛性脑脊髓炎/慢性疲劳综合征 (ME/CFS) 是一种复杂的多系统疾病,缺乏有效的治疗方法和对其病因的生物医学理解。尽管大约 0.2-0.4% 的患病率和高公共卫生负担,并且有证据表明它具有可遗传的成分,但 ME/CFS 尚未从技术和分析工具的进步中受益,这些进步提高了我们对许多其他复杂疾病的理解. 在这里,我们批判性地审查遗传因素改变 ME/CFS 风险的现有证据,然后得出大多数 ME/CFS 候选基因关联不会被英国生物银行内更大的 CFS 队列复制的结论。该队列的多项全基因组关联研究也没有产生一致的显着关联。在即将进行的更大规模的全基因组关联研究之前,
更新日期:2020-10-02
down
wechat
bug