DNA Methylation Variations and Epigenetic Aging in Telomere Biology Disorders. DNA Methylation Variations and Epigenetic Aging in Telomere Biology Disorders

DNA methylation profiling of 35 Telomere Biology Disorder (TBD) cases and 20 age-matched controls using the Infinium MethylationEPIC BeadChip arrays (Illumina). The cutoff for methylation differences between the cases and controls was set to |Δβ≥|0.2. Overall design: The molecular analysis was conducted in leukocytes from whole blood. The DNA was bisulfite converted using the EZ DNA Methylation Kit (Zymo Research, Irvine, CA) and genome-wide assessment of DNA methylation profiles was performed using the Infinium MethylationEPIC BeadChip arrays (Illumina, San Diego, CA) with coverage of >850 000 CpG sites. The beta values for cases and controls were adjusted for leukocyte cell composition using the GSE103541 data set from the Gene Expression Omnibus database repository.

本研究利用Infinium MethylationEPIC微珠芯片（Illumina），对35例端粒生物学障碍（Telomere Biology Disorder, TBD）患者与20例年龄匹配的对照样本开展DNA甲基化谱分析。病例组与对照组间甲基化差异的截断值设定为|Δβ|≥0.2。整体实验设计如下：本研究的分子分析以全血来源的白细胞为实验材料。基因组DNA采用EZ DNA甲基化试剂盒（Zymo Research，美国加利福尼亚州欧文市）完成亚硫酸氢盐转化，随后使用Infinium MethylationEPIC微珠芯片（Illumina，美国加利福尼亚州圣迭戈市）进行全基因组DNA甲基化谱检测，覆盖超过850,000个CpG位点。本研究借助基因表达综合数据库（Gene Expression Omnibus, GEO）中的GSE103541数据集，对病例组与对照组的β值进行白细胞细胞组成校正。