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GENETICS IN 2020

New genetic insights into kidney physiology and disease

Nature Reviews Nephrology volume 17, pages 85–86 (2021)Cite this article

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Genetic research in nephrology is rapidly advancing. Key studies published in 2020 demonstrate that genetic findings can provide new tools for patient diagnosis and risk stratification as well as important insights into kidney physiology and disease mechanisms that could potentially lead to novel therapies.

Key advances

  • A genome-wide association study (GWAS) of membranous nephropathy identifies novel loci and validates a genetic risk score that could improve diagnosis of this rare disease1.

  • GWAS that integrate genomic and metabolomic data from patients with chronic kidney disease identify novel candidate mechanisms of metabolite detoxification and excretion in the kidney3.

  • Analysis of the contributions of monogenic variants and polygenic risk scores to probability of disease in carriers of risk variants for tier 1 genomic conditions demonstrates that polygenic background modifies the risk of monogenic diseases4.

  • High-resolution imaging of uromodulin, which is encoded by an important kidney disease gene, identifies a potential mechanism by which this protein might defend against urinary tract infections8.

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Fig. 1: Genetics as a tool to understand kidney function in health and disease.

References

  1. Xie, J. et al. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nat. Commun. 11, 1600 (2020).

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Authors and Affiliations

  1. Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany

    Anna Köttgen

  2. Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA

    Anna Köttgen

  3. Division of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA

    Krzysztof Kiryluk

  4. Institute for Genomic Medicine, Columbia University, New York, NY, USA

    Krzysztof Kiryluk

Authors
  1. Anna Köttgen
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  2. Krzysztof Kiryluk
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Corresponding authors

Correspondence to Anna Köttgen or Krzysztof Kiryluk.

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The authors declare no competing interests.

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Köttgen, A., Kiryluk, K. New genetic insights into kidney physiology and disease. Nat Rev Nephrol 17, 85–86 (2021). https://doi.org/10.1038/s41581-020-00383-2

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