Methylation Profiling of IGHV Unmutated vs mutated CLL. Homo sapiens

In the present study, the methylation profiling (MeDIP) was carried out in 14 treatment-naive, early stage (Rai stage 0-2) CLL patients and pooled 19+ normal controls. To find an association of methylation with IGHV mutation status, CLL patients were further segregated into IGHV unmutated (n=9) and IGHV mutated (n=5) subgroups. The methylation signature obtained for CLL versus nornal controls and; unmutated versus mutated CLL was integrated with gene expression profile of these patients and the results were correlated with clinical outcome. Overall design: Methylation profiling was carried out in 14 treatment naïve early stage CLL samples and pooled samples (n=3) from 10 healthy subjects. The CLL patients were further seggregated into unmutated (n=9) and mutated (n=5) on the basis of IGHV mutation status and methylation profile of these two groups were also compared.

本研究针对14例初治早期（Rai分期0-2期）慢性淋巴细胞白血病（Chronic Lymphocytic Leukemia, CLL）患者，以及19例及以上合并正常对照样本，采用甲基化DNA免疫沉淀（Methylated DNA Immunoprecipitation, MeDIP）技术开展甲基化谱分析。为探究甲基化与免疫球蛋白重链可变区（Immunoglobulin Heavy Chain Variable Region, IGHV）突变状态的关联，本研究将CLL患者进一步划分为IGHV未突变组（n=9）与IGHV突变组（n=5）两个亚组。将CLL与正常对照、IGHV未突变与突变型CLL的差异甲基化特征，与上述患者的基因表达谱进行整合，并将分析结果与临床结局进行关联。
研究整体设计：本研究针对14例初治早期CLL样本，以及来自10名健康受试者的3份合并对照样本开展甲基化谱分析；根据IGHV突变状态，将CLL患者进一步划分为未突变组（n=9）与突变组（n=5），并对这两个亚组的甲基化谱进行比较分析。