Through screening of 24 million different single nucleotide polymorphisms in a large Icelandic study population, previously unidentified mutations in three solute carrier genes (SLC6A19, SLC25A45 and SLC47A1) and two E3 ubiquitin ligase genes (RNF186 and RNF128) were found. Association studies with serum creatinine showed these mutations explained 0.5% of the variability in serum creatinine among Icelanders. Further analysis (15,594 cases and 291,428 controls) revealed that three of these variants were associated with chronic kidney disease.
References
Sveinbjornsson, G. et al. Rare mutations associating with serum creatinine and chronic kidney disease. Hum. Mol. Genet. 10.1093/hmg/ddu399
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Rare mutations associated with chronic kidney disease. Nat Rev Nephrol 10, 542 (2014). https://doi.org/10.1038/nrneph.2014.154
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DOI: https://doi.org/10.1038/nrneph.2014.154
