Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review

Katie Kerr, Helen McAneney, Cheryl Flanagan, Alexander P Maxwell, Amy Jayne McKnight

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


BACKGROUND: The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important biomarker for rare diseases and should be evaluated for rare renal conditions.

METHODS: A comprehensive systematic review of methylation and rare renal disorders was conducted by searching the electronic databases MEDLINE, EMBASE, PubMed, Cochrane Library, alongside grey literature from GreyLit and OpenGrey databases, for publications published before September 2018. Additionally, the reference lists of the included papers were searched. Data was extracted and appraised including the primary focus, measurement and methodological rigour of the source. Eligibility criteria were adapted using the inclusion criteria from 'The 100,000 Genomes Project' and The National Registry of Rare Kidney Diseases, with additional focus on methylation.

RESULTS: Thirteen full text articles were included in the review. Diseases analysed for differential methylation included glomerular disease, IgA nephropathy, ADPKD, rare causes of proteinuria, congenital renal agenesis, and membranous nephropathy.

CONCLUSIONS: Differential methylation has been observed for several rare renal diseases, highlighting its potential for improving molecular characterisation of these disorders. Further investigation of methylation following a standardised reporting structure is necessary to improve research quality. Multi-omic data will provide insights for improved diagnosis, prognosis and support for individuals living and working with rare renal diseases.

Original languageEnglish
Article number320
JournalBMC Nephrology
Issue number1
Publication statusPublished (in print/issue) - 16 Aug 2019


  • Biomarkers/metabolism
  • Glomerulonephritis, IGA/diagnosis
  • Glomerulonephritis, Membranous/diagnosis
  • Humans
  • Kidney/abnormalities
  • Kidney Diseases/diagnosis
  • Methylation
  • Polycystic Kidney, Autosomal Dominant/diagnosis
  • Proteinuria/diagnosis
  • Rare Diseases/diagnosis


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