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Abstract: FR-PO1038

Trans-Ethnic Genome-Wide Association Study of Kidney Function Identifies Novel Loci Influencing the Risk for Kidney Stone

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Franceschini, Nora, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, United States
  • Le, Thu H., University of Virginia, Charlottesville, Virginia, United States
  • Akbarov, Artur, University of Manchester , Manchester, United Kingdom
  • Tomaszewski, Maciej, University of Manchester , Manchester, United Kingdom
  • Morris, Andrew P., University of Liverpool, Liverpool, United Kingdom

Group or Team Name

  • COGENT-Kidney Consortium

Genetic variants in the UMOD and RGS14 genes are associated with kidney function and the risk of kidney stone. We hypothesized that additional kidney function loci influence the risk of kidney stone.


We performed trans-ethnic meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) in 312,468 individuals of diverse ancestry, followed by fine-mapping of regions informed by functional and regulatory annotations. Variants driving eGFR association signals were queried in 452,264 UK Biobank participants of European descent for association with ICD clinical code of calculus of kidney or ureter. Associations were validated in an independent sample of 20,339 individuals of diverse ancestry (44% European ancestry) with self-reported diagnosis and history of kidney stones.


We identified 93 loci attaining genome-wide significant evidence of association with eGFR (p<5x10-8), of which 20 were novel. After adjusting for multiple testing, five eGFR loci were associated with an ICD-code diagnosis of kidney stone in the UK Biobank. These included the two loci previously associated with kidney stones (UMOD, rs77924615, p=1.6 x 10-16 and RGS14, p=2.0 x10-8), a novel eGFR locus CERS2 (rs267738, p=1.6 x 10-5), and two known eGFR loci: CYP24A1 (rs17216707, p=9.0x10-10), and PRKAG2 (p=2.4 x10-5). The association of the CERS2 variant with kidney stone replicated in the independent multi-ethnic study (p=0.008).


Several genetic variants associated with eGFR also confer risk for kidney stone, supporting shared genetic factors for kidney function and stone formation.


  • NIDDK Support