Genetic risk factors of ME/CFS: a critical review.
Genetic risk factors of ME/CFS: a critical review.
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DOI：
10.1093/hmg/ddaa169
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发表时间：
2020-09-30
影响因子：
3.5
通讯作者：
Ponting CP
中科院分区：
文献类型：
--
作者：
Dibble JJ;McGrath SJ;Ponting CP
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，缺乏有效的治疗和生物医学的理解，其原因。尽管ME/CFS的患病率为0.2-0.4%，公共卫生负担很高，并且有证据表明它具有遗传成分，但ME/CFS尚未受益于技术和分析工具的进步，这些技术和分析工具提高了我们对许多其他复杂疾病的理解。在这里，我们批判性地回顾了遗传因素改变ME/CFS风险的现有证据，然后得出结论，大多数ME/CFS候选基因关联并未被英国生物库内更大的CFS队列所复制。该队列的多个全基因组关联研究也没有产生一致的显著关联。在即将到来的更大的全基因组关联研究之前，我们讨论了这些研究如何产生新的研究路线，以研究与ME/CFS疾病有因果关系的DNA变异、基因和细胞类型。
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.
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