TABLE 1.

Summary of DNA methylation studies in ADPKD.

Sample type	Gene methylation status	Conclusion	Method	Reference
Kidney tissue	PKD1 gene body hypermethylation	Reduced expression of PKD1 gene and genes related to cystogenesis in ADPKD.	MIRA-seq	Woo et al. (2014)
Kidney tissue	MUPCDH gene promoter hypermethylation	Reduced gene expression and potential novel biomarker	MIRA-seq	Woo et al. (2015)
Kidney tissue	PKD1 gene body hypermethylation	Differentially hypomethylated fragments of the genome associated with ADPKD.	RRBS	Bowden et al. (2018)
iPSC	No change in DNA methylation pattern in promoters of PKD1 and PKD2 genes. DMRs observed between control and PKD mutant iPSCs	Methylation pattern was indicative of PKD-specific epigenetic memory	MeDIP-seq	Kenter et al. (2020)
Kidney cysts	N/A a	DMRs in individual cysts matched whole kidney tissue; a subset of loci showed marked DNA methylation heterogeneity	RRBS	Bowden et al. (2020)
Blood	PKD1 promoter hypermethylation	Inversely correlated with PKD1 gene expression	MS-HRM	Hajirezaei et al. (2020)

^aCoverage was too little for PKD1 gene methylation analysis.

Abbreviations used: iPSC, induced pluripotent stem cells; DMRs, differentially methylated regions; N/A, none applicable; MIRA-seq, methylated-CpG island recovery assay with parallel sequencing; RRBS, reduced representation bisulfite sequencing; MeDIP-seq, methylated DNA immunoprecipitation sequencing; MS-HRM, methylation-sensitive high-resolution melting.