Potential DNA methylation biomarkers for the detection of clear cell renal cell carcinoma identified by a whole blood-based epigenome-wide association study

Abstract Background Renal cell carcinoma (RCC) is the fourteenth most common cancer worldwide, accounting for approximately 4% of all cancers. More than 70% RCC are clear (ccRCC). To date, no reliable biomarkers detection ccRCC have been identified. The aim this study was to identify blood-based DNA methylation (DNAm) markers early and treatment ccRCC. Results ccRCC-associated DNAm markers, we performed targeted bisulfite sequencing (TB-seq) an epigenome-wide association (EWAS) using whole blood-derived from 50 patients healthy controls in discovery phase. EWAS a linear regression model. analysis adjusted age, sex, estimated cell-type composition. In replication phase, accuracy identified CpGs verified 48 independent controls. We six hypomethylated PCBD2/MTND4P12 phase ( p < 1.75 × 10 −8 ); four were reproducible 2.96 ). sum levels at valid indicator both (area under receiver operating characteristic curve [AUC-ROC] = 0.922) (AUC-ROC 0.871). Moreover, results cis -expression quantitative suggested that affect gene expression transcription factor 7 TCF7 ) voltage-dependent anion-selective channel 1 VDAC1 ), which involved progression. Conclusions study, by DNA. found may be potential biomarker detection, but value as needs investigated future studies.