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BMC Nephrology
Published in: BMC Nephrology 1/2019

Open Access 01-12-2019 | Biomarkers | Research article

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

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

Published in: BMC Nephrology | Issue 1/2019

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Abstract

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.
Appendix
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Metadata
Title
Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review
Authors
Katie Kerr
Helen McAneney
Cheryl Flanagan
Alexander P. Maxwell
Amy Jayne McKnight
Publication date
01-12-2019
Publisher
BioMed Central
Keyword
Biomarkers
Published in
BMC Nephrology / Issue 1/2019
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-019-1517-5

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