Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Roche Sequencing Solutions, Pleasanton, CA, USA.
Nat Med. 2018 Dec;24(12):1930-1939. doi: 10.1038/s41591-018-0237-x. Epub 2018 Nov 5.
Epigenomics regulates gene expression and is as important as genomics in precision personal health, as it is heavily influenced by environment and lifestyle. We profiled whole-genome DNA methylation and the corresponding transcriptome of peripheral blood mononuclear cells collected from a human volunteer over a period of 36 months, generating 28 methylome and 57 transcriptome datasets. We found that DNA methylomic changes are associated with infrequent glucose level alteration, whereas the transcriptome underwent dynamic changes during events such as viral infections. Most DNA meta-methylome changes occurred 80-90 days before clinically detectable glucose elevation. Analysis of the deep personal methylome dataset revealed an unprecedented number of allelic differentially methylated regions that remain stable longitudinally and are preferentially associated with allele-specific gene regulation. Our results revealed that changes in different types of 'omics' data associate with different physiological aspects of this individual: DNA methylation with chronic conditions and transcriptome with acute events.
表观基因组学调节基因表达，在精准个人健康方面与基因组学同样重要，因为它受环境和生活方式的影响很大。我们对一名志愿者在 36 个月期间采集的外周血单核细胞的全基因组 DNA 甲基化和相应转录组进行了分析，生成了 28 个甲基组和 57 个转录组数据集。我们发现，DNA 甲基化组的变化与葡萄糖水平的不频繁变化有关，而转录组在病毒感染等事件中发生了动态变化。大多数 DNA 元甲基化组的变化发生在临床可检测的葡萄糖升高前 80-90 天。对深度个人甲基组数据集的分析揭示了大量前所未有的等位基因差异甲基化区域，这些区域在纵向保持稳定，并且与等位基因特异性基因调控呈优先相关。我们的研究结果表明，不同类型的“组学”数据的变化与个体的不同生理方面相关：DNA 甲基化与慢性疾病相关，转录组与急性事件相关。
