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本文引用的文献

1
Epigenome-wide association study in the European Prospective Investigation into Cancer and Nutrition (EPIC-Turin) identifies novel genetic loci associated with smoking.全基因组关联研究在欧洲癌症前瞻性调查与营养研究(EPIC-Turin)中确定了与吸烟有关的新遗传位点。
Hum Mol Genet. 2013 Mar 1;22(5):843-51. doi: 10.1093/hmg/dds488. Epub 2012 Nov 21.
2
Epigenetic biomarkers of T-cells in human glioma.人类脑胶质瘤中 T 细胞的表观遗传生物标志物。
Epigenetics. 2012 Dec 1;7(12):1391-402. doi: 10.4161/epi.22675. Epub 2012 Oct 29.
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Decreased NK cells in patients with head and neck cancer determined in archival DNA.存档 DNA 中检测到头颈部癌症患者 NK 细胞减少。
Clin Cancer Res. 2012 Nov 15;18(22):6147-54. doi: 10.1158/1078-0432.CCR-12-1008. Epub 2012 Sep 26.
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Analysing and interpreting DNA methylation data.分析和解读 DNA 甲基化数据。
Nat Rev Genet. 2012 Oct;13(10):705-19. doi: 10.1038/nrg3273.
5
450K epigenome-wide scan identifies differential DNA methylation in newborns related to maternal smoking during pregnancy.450K 全基因组表观遗传扫描发现,与母亲孕期吸烟有关的新生儿 DNA 甲基化存在差异。
Environ Health Perspect. 2012 Oct;120(10):1425-31. doi: 10.1289/ehp.1205412. Epub 2012 Jul 31.
6
Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility.人类血液细胞中差异的 DNA 甲基化:对细胞谱系的影响及对疾病易感性的研究。
PLoS One. 2012;7(7):e41361. doi: 10.1371/journal.pone.0041361. Epub 2012 Jul 25.
7
A functional methylome map of ulcerative colitis.溃疡性结肠炎的功能性甲基组图谱。
Genome Res. 2012 Nov;22(11):2130-7. doi: 10.1101/gr.138347.112. Epub 2012 Jul 23.
8
Nutrition and epigenetics: an interplay of dietary methyl donors, one-carbon metabolism and DNA methylation.营养与表观遗传学:膳食甲基供体、一碳代谢与 DNA 甲基化的相互作用。
J Nutr Biochem. 2012 Aug;23(8):853-9. doi: 10.1016/j.jnutbio.2012.03.003. Epub 2012 Jun 27.
9
Peripheral blood immune cell methylation profiles are associated with nonhematopoietic cancers.外周血免疫细胞甲基化谱与非血液系统癌症相关。
Cancer Epidemiol Biomarkers Prev. 2012 Aug;21(8):1293-302. doi: 10.1158/1055-9965.EPI-12-0361. Epub 2012 Jun 19.
10
DNA methylation arrays as surrogate measures of cell mixture distribution.DNA 甲基化芯片作为细胞混合物分布的替代测量指标。
BMC Bioinformatics. 2012 May 8;13:86. doi: 10.1186/1471-2105-13-86.

命运并非总是写在基因里:表观基因组学在流行病学研究中的应用。

The fate is not always written in the genes: epigenomics in epidemiologic studies.

机构信息

Department of Epidemiology, Brown University, Providence, Rhode Island, USA.

出版信息

Environ Mol Mutagen. 2013 Aug;54(7):533-41. doi: 10.1002/em.21762. Epub 2013 Feb 26.

DOI:10.1002/em.21762
PMID:23444110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4093796/
Abstract

Cost-effective, high-throughput epigenomic technologies have begun to emerge, rapidly replacing the candidate gene approach to molecular epidemiology and offering a comprehensive strategy for the study of epigenetics in human subjects. Epigenome-wide association studies (EWAS) provide new opportunities for advancing our understanding of epigenetic changes associated with complex disease states. However, such analyses are complicated by the dynamic nature of DNA methylation. In contrast to genomic studies, where genotype is essentially constant across somatic cells, EWAS present a new set of challenges, largely due to differential DNA methylation across distinct cell types, particularly for studies involving heterogeneous tissue sources, and changes in the epigenetic profile that occur over time. This review describes potential applications of EWAS from the viewpoint of the molecular epidemiologist, along with special considerations and pitfalls involved in the design of such studies.

摘要

成本效益高、高通量的表观基因组学技术开始出现,迅速取代了候选基因方法在分子流行病学中的应用,为人类表观遗传学研究提供了全面的策略。全基因组关联研究 (EWAS) 为我们深入了解与复杂疾病状态相关的表观遗传变化提供了新的机会。然而,这种分析受到 DNA 甲基化动态性质的影响。与基因组研究不同,基因型在体细胞中基本保持不变,EWAS 提出了一系列新的挑战,主要是由于不同细胞类型之间的 DNA 甲基化存在差异,特别是对于涉及异质组织来源的研究,以及随着时间的推移发生的表观遗传谱变化。本综述从分子流行病学家的角度描述了 EWAS 的潜在应用,以及此类研究设计中涉及的特殊考虑因素和陷阱。