ArticleHuman genetics2014
Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review.BMC nephrology · 2019Pooled it
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- DNA methylation in chronic kidney disease.BMC nephrology · 2025Review
- Review
- Genome-wide DNA methylation profiles in the raphe nuclei of patients with autism spectrum disorder.Psychiatry and clinical neurosciences · 2025Article
- EZH2 inhibition or genetic ablation suppresses cyst growth in autosomal dominant polycystic kidney disease.Journal of translational medicine · 2024Article
- DNA methyltransferase 1 (DNMT1) promotes cyst growth and epigenetic age acceleration in autosomal dominant polycystic kidney disease.Kidney international · 2024Article
- Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes.Nucleic acids research · 2023Article
- Review
- Targeting the ADPKD methylome using nanoparticle-mediated combination therapy.APL bioengineering · 2023Article
- MethylC-analyzer: a comprehensive downstream pipeline for the analysis of genome-wide DNA methylation.Botanical studies · 2023Article
- Organoid-on-a-chip model of human ARPKD reveals mechanosensing pathomechanisms for drug discovery.Science advances · 2022Article
- Molecular Mechanisms of Epigenetic Regulation, Inflammation, and Cell Death in ADPKD.Frontiers in molecular biosciences · 2022Review
- Emerging therapies for autosomal dominant polycystic kidney disease with a focus on cAMP signaling.Frontiers in molecular biosciences · 2022Review
- Chromatin Methylation Abnormalities in Autosomal Dominant Polycystic Kidney Disease.Frontiers in medicine · 2022Review
- Recent Discoveries in Epigenetic Modifications of Polycystic Kidney Disease.International journal of molecular sciences · 2021Review
- Suppression ofBiomolecules & therapeutics · 2021Article
- DNA Methylation Sustains "Inflamed" Memory of Peripheral Immune Cells Aggravating Kidney Inflammatory Response in Chronic Kidney Disease.Frontiers in physiology · 2021Review
- Autophagy induction promotes renal cyst growth in polycystic kidney disease.EBioMedicine · 2020Article
- Pathway identification through transcriptome analysis.Cellular signalling · 2020Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a common human genetic disease characterized by the formation of multiple fluid-filled cysts in bilateral kidneys. Although mutations in polycystic kidney disease 1 (PKD1) are predominantly responsible for ADPKD, the focal and sporadic property of individual cystogenesis suggests another molecular mechanism such as epigenetic alterations. To determine the epigenomic alterations in ADPKD and their functional relevance, ADPKD and non-ADPKD individuals were analyzed by unbiased methylation profiling genome-wide and compared with their expression data. Intriguingly, PKD1 and other genes related to ion transport and cell adhesion were hypermethylated in gene-body regions, and their expressions were downregulated in ADPKD, implicating epigenetic silencing as the key mechanism underlying cystogenesis. Especially, in patients with ADPKD, PKD1 was hypermethylated in gene-body region and it was associated with recruitment of methyl-CpG-binding domain 2 proteins. Moreover, treatment with DNA methylation inhibitors retarded cyst formation of Madin-Darby Canine Kidney cells, accompanied with the upregulation of Pkd1 expression. These results are consistent with previous studies that knock-down of PKD1 was sufficient for cystogenesis. Therefore, our results reveal a critical role for hypermethylation of PKD1 and cystogenesis-related regulatory genes in cyst development, suggesting epigenetic therapy as a potential treatment for ADPKD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.