Graft-derived cell-free DNA (gdcfDNA) quantification is a developing tool for monitoring organ health following transplantation. Acute cellular rejection, sepsis and ischaemia following liver transplantation increase rates of graft cell death leading to elevated circulating levels of gdcfDNA. Until recently, gdcfDNA quantification assays have largely relied on donor and recipient genetic chimerism to differentiate gdcfDNA from ‘background’ cfDNA. [1, 2] Our group has previously developed a probe-free droplet digital PCR assay to quantify gdcfDNA based on the identification of small deletion/insertion polymorphisms to distinguish donor-derived cfDNA from that of the recipient. [3]
DNA methylation conforms to specific patterns depending on the tissue of origin and therefore forms another promising target to differentiate gdcfDNA from ‘background’ cfDNA. [4] Here we describe the development of a methylation-specific, droplet digital PCR, gdcfDNA quantification assay. This assay is based on the use of tissue-specific (hepatocyte) DNA methylation patterns to discriminate gdcfDNA from background cfDNA. We compare the performance of this methylation-specific assay with our previous polymorphism-dependent quantification technique and discuss the relative benefits of each approach.