Epigenome-wide Association Studies and the Interpretation of Disease -Omics

被引:144
作者
Birney, Ewan [1 ]
Smith, George Davey [2 ]
Greally, John M. [3 ]
机构
[1] EBI, Wellcome Trust Genome Campus, Cambridge, England
[2] Univ Bristol, Sch Social & Community Med, Oakfield House, Oakfield Grove, England
[3] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA
来源
PLOS GENETICS | 2016年 / 12卷 / 06期
基金
英国医学研究理事会;
关键词
DNA METHYLATION; MENDELIAN RANDOMIZATION; HETEROGENEITY; EPIDEMIOLOGY; EPIGENETICS; INFERENCE;
D O I
10.1371/journal.pgen.1006105
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Epigenome-wide association studies represent one means of applying genome-wide assays to identify molecular events that could be associated with human phenotypes. The epigenome is especially intriguing as a target for study, as epigenetic regulatory processes are, by definition, heritable from parent to daughter cells and are found to have transcriptional regulatory properties. As such, the epigenome is an attractive candidate for mediating long-term responses to cellular stimuli, such as environmental effects modifying disease risk. Such epigenomic studies represent a broader category of disease -omics, which suffer from multiple problems in design and execution that severely limit their interpretability. Here we define many of the problems with current epigenomic studies and propose solutions that can be applied to allow this and other disease -omics studies to achieve their potential for generating valuable insights.
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页数:9
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