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Genetic loci influencing kidney function and chronic kidney disease


Using genome-wide association, we identify common variants at 2p12–p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10−10 to 10−15). Of these, rs10206899 (near NAT8, 2p12–p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 × 10−5 and P = 3.6 × 10−4, respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.

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Figure 1: Architecture of the loci associated with creatinine in the genome-wide association study.

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Study-specific acknowledgments are provided in the Supplementary Note. We thank S. Asquith and J. Collier at K-bioscience for their help with the replication genotyping.

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Authors and Affiliations



J.C.C., P.E., L.L., J.S., G.N. and J.S.K. designed the study. J.C.C., W.Z., D.A.L. and P.v.d.H. led the data analysis. J.C.C., P.E., L.L., J.S., G.N. and J.S.K. wrote the manuscript, with contributions from all the authors.

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Correspondence to John C Chambers or Jaspal S Kooner.

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The authors declare no competing financial interests.

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Supplementary Methods, Supplementary Note, Supplementary Tables 1–6 and Supplementary Figures 1–6 (PDF 798 kb)

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Chambers, J., Zhang, W., Lord, G. et al. Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 42, 373–375 (2010).

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