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Genome-Wide Association Study of CKD Progression
Cassianne Robinson-Cohen1, Jefferson L Triozzi1, Bryce Rowan2
1Division of Nephrology and Hypertension, Vanderbilt Center for Kidney Disease, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
Journal of the American Society of Nephrology : JASN
|June 1, 2023
Summary
Genetic analysis of kidney function decline identified novel loci associated with eGFR changes in chronic kidney disease (CKD) patients. These findings advance understanding of CKD progression and potential therapeutic targets.
Area of Science:
- Genetics
- Nephrology
- Genomics
Background:
- Chronic kidney disease (CKD) progression is linked to adverse outcomes.
- Understanding genetic factors influencing estimated glomerular filtration rate (eGFR) decline is crucial.
- Limited genetic loci associated with longitudinal eGFR decline have been identified previously.
Approach:
- Conducted a large-scale meta-analysis of genome-wide association studies (GWAS) focusing on longitudinal eGFR decline.
- Included 116,870 participants with CKD from the Million Veteran Program and Vanderbilt University Medical Center.
- Analyzed annualized relative slope in outpatient eGFR, stratified by ethnicity and diabetes status.
Key Points:
- Identified three significant loci associated with longitudinal eGFR decline, including two novel ones.
- The UMOD/PDILT locus showed the strongest association with accelerated eGFR decline.
- Variants in BICC1 were associated with slower eGFR decline, while HEATR4 variants showed associations in specific subgroups (Black/African American individuals without diabetes).
Conclusions:
- The study identified novel genetic loci influencing the rate of eGFR decline in CKD.
- These findings contribute to understanding the molecular mechanisms underlying CKD progression.
- The identified genetic factors may inform the development of novel therapeutic strategies for progressive kidney disease.
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