| Title: | The association of genetic variants with kidney function and kidney diseases. |
| Lead Institution: | Mayo Clinic |
| Principal investigator: |
Application 576095
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About
Chronic kidney disease (CKD) affects currently nearly 10% of the adult population. Amid other major risk factors, genetics play an important role in determining and modifying the risk of CKD and CKD progression. Genetics is expected to revolutionize CKD research in the next decades by delivering improvements in diagnostic precision, risk assessment, identification of new mechanisms of progression and of novel therapeutic targets. Prior genome-wide association studies (GWAS) in CKD have already shown the importance of common genetic variants, but investigation on the effect of rare variants, polygenic scores, mechanisms of penetrance and pathogenicity remains to be done to fulfil the promises of genetics in CKD. Fortunately, recent advances in digital resources provide an opportunity to bridge these knowledge gaps and large-scale databases such as the UKBB enable comprehensive exploration of rare genetic variants and penetrance. In addition, integration of omics will potentiate the discovery of specific pathways related to disease determination and progression, leveraging our capability to identify new biomarkers of disease and new targets for treatment. This research proposal aims to investigate genetic variants and their penetrance in CKD. Our initial focus will be to investigate rare genetic variants associated to kidney function and CKD-related phenotypes using burden tests for rare variants and to define the penetrance of pathogenic genetic variants for renal phenotypes in a panel of CKD-related genes (pathogenic and likely pathogenic variants). Results will be disseminated through peer-reviewed scientific journals, public repositories, and Nephrology conferences. Collaborators: Dr. Alexandre da Costa Pereira, already registered in UKBB - alexandre_pereira@hms.harvard.edu MTA Contacts: Kelly Smith, smith.kelly1@mayo.edu; Brenda Burns, burns.brenda@mayo.edu; Julie Johnson, johnson.julie3@mayo.edu; Tara Rabe, rabe.tara@mayo.edu1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 20962 | Genetic determinants of serum creatinine and cystatin C independent of kidney function generate bias in filtration markers | Silvia M Titan (+9) | 2026 | Kidney International |
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