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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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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.

Supplementary information

Supplementary Text and Figures

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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