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Updated: Jul 10, 2025
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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
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Monogenic and polygenic concepts in chronic kidney disease (CKD)
Julia Jefferis1,2,3, Rebecca Hudson4,5, Paul Lacaze6
1Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia. Julia.jefferis@health.qld.gov.au.
Journal of Nephrology
|November 22, 2023
Summary
Genetic factors significantly impact kidney function, with both single-gene and multiple-gene influences. Polygenic Risk Scores show promise for stratifying risk in certain kidney diseases, aiding targeted therapies.
Area of Science:
- Nephrology
- Genetics
- Genomics
Background:
- Kidney function is influenced by both monogenic and polygenic genetic factors.
- Heritability estimates for kidney function range from 35-69% in family studies and 7.1-20.3% via SNP-based heritability.
- Monogenic disorders account for a significant portion of pediatric and adult kidney diseases.
Purpose of the Study:
- To review the heritability of kidney function traits.
- To explore monogenic and polygenic concepts in kidney disease.
- To focus on Polygenic Risk Scores (PRS) for kidney function and chronic kidney disease (CKD).
Main Methods:
- Review of population studies on kidney function heritability.
- Analysis of monogenic and polygenic kidney disease concepts.
- Examination of recent developments and validation of PRS in large populations.
Main Results:
- Polygenic Risk Scores correlate with kidney function but lack individual prediction specificity.
- Certain kidney diseases like membranous nephropathy and IgA nephropathy may benefit from PRS for risk stratification.
- Genetic studies offer potential for developing targeted therapies and interventions.
Conclusions:
- Understanding genomic score development and validation is crucial for clinical implementation.
- PRS show potential for improving risk stratification in specific genetic kidney diseases.
- Further research is needed to guide the clinical application of genomic scores in nephrology.
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