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Updated: May 14, 2026
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Gene polymorphisms as clinical tools in chronic glomerulopathies: a prospective study.
Isabelle Chapdelaine1, Rémi Goupil, Valeria Azcoitia
1Division of Nephrology, Hôpital du Sacré-Coeur de Montréal, University of Montreal, Montreal, Que., Canada.
Nephron. Clinical Practice
|January 25, 2013
Summary
Genetic variations in chronic kidney disease do not predict progression in patients receiving standard therapies. Blood pressure and proteinuria remain key indicators of disease advancement.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Genetic polymorphisms are investigated as risk factors for chronic kidney disease (CKD) progression.
- Previous studies suggested associations between specific gene variants and CKD pathophysiology.
- Validation in prospective cohorts receiving standard treatments is crucial for clinical utility.
Purpose of the Study:
- To validate and compare the predictive value of nine candidate gene polymorphisms in CKD progression.
- To assess if these polymorphisms can identify patients at higher risk of CKD progression.
- To evaluate polymorphisms in the context of recommended antihypertensive and antiproteinuric therapies.
Main Methods:
- Identified 9 gene polymorphisms from PubMed associated with CKD progression, primarily in renin-angiotensin-aldosterone and inflammation pathways.
- Recruited 93 patients with chronic glomerulopathies for prospective follow-up.
- Monitored renal function decline, proteinuria, and blood pressure over a median of 36 months.
Main Results:
- Proteinuria and blood pressure were strong predictors of CKD progression.
- None of the nine investigated polymorphisms predicted renal function decline in patients receiving recommended therapies.
- No significant correlations were found between polymorphisms and proteinuria or blood pressure levels.
Conclusions:
- The studied gene polymorphisms are not validated as individual clinical tools for predicting CKD progression.
- Current standard therapies for CKD effectively manage progression, overshadowing the predictive role of these genetic markers.
- Further research may be needed to identify other genetic or non-genetic factors influencing CKD progression.
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