癌症相关的DNA甲基化连锁区域

DNA methylation linkage disequilibrium block are associated with cancer

DNA甲基化是重要的表观遗传标记之一,在转录调控中起直接作用。DNA甲基化的异常与癌症的发生发展密切相关。高通量测序使得在单碱基分辨率下检测全基因组的DNA甲基化水平成为可能。本文基于临近CpGs位点甲基化水平的相关性挖掘DNA甲基化连锁区域。结果发现DNA甲基化连锁区域的甲基化水平和模式在癌症中存在异常,而且显著富集到分化/发育相关的生物学功能。DNA甲基化连锁区域的挖掘有助于对具有生物学功能的表观遗传标记的进一步理解,有助于对癌症诊断的表观遗传标记的挖掘。

DNA methylation is one of the important epigenetic markers which plays a direct role in transcriptional regulation. Abnormal of DNA methylation is closely associated with cancer development. High throughput sequencing technology has made it possible to measure genome-wide DNA methylation level based on single base resolution. We identified DNA methylation linkage disequilibrium blocks that showed strong correlation of DNA methylation between adjacent CpGs. We found that the methylation levels and patterns of block in cancer were significantly different from normal, and enriched in differentiation/development biological functions. The identification of DNA methylation block will help further understanding of epigenetic makers having biological functions, and even the mining of epigenetic biomarkers for cancer diagnosis.