UMOD and the architecture of kidney disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2022-07-26

AUTHORS

Olivier Devuyst, Murielle Bochud, Eric Olinger

ABSTRACT

The identification of genetic factors associated with the risk, onset, and progression of kidney disease has the potential to provide mechanistic insights and therapeutic perspectives. In less than two decades, technological advances yielded a trove of information on the genetic architecture of chronic kidney disease. The spectrum of genetic influence ranges from (ultra)rare variants with large effect size, involved in Mendelian diseases, to common variants, often non-coding and with small effect size, which contribute to polygenic diseases. Here, we review the paradigm of UMOD, the gene coding for uromodulin, to illustrate how a kidney-specific protein of major physiological importance is involved in a spectrum of kidney disorders. This new field of investigation illustrates the importance of genetic variation in the pathogenesis and prognosis of disease, with therapeutic implications. More... »

PAGES

771-781

References to SciGraph publications

  • 2017-08-07. Uromodulin: from physiology to rare and complex kidney disorders in NATURE REVIEWS NEPHROLOGY
  • 2019-09-05. Autosomal dominant tubulointerstitial kidney disease in NATURE REVIEWS DISEASE PRIMERS
  • 2019-09-11. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria in NATURE COMMUNICATIONS
  • 2008-03-17. The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome in BMC CARDIOVASCULAR DISORDERS
  • 2019-08-23. Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis in SCIENTIFIC REPORTS
  • 2019-10-02. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels in NATURE GENETICS
  • 1985-10-01. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 in NATURE
  • 2016-08-01. Insights into kidney diseases from genome-wide association studies in NATURE REVIEWS NEPHROLOGY
  • 2016-11-17. The continuum of causality in human genetic disorders in GENOME BIOLOGY
  • 2019-12-20. The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK in SCIENTIFIC REPORTS
  • 2009-10. Finding the missing heritability of complex diseases in NATURE
  • 2019-08-26. Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program in NATURE COMMUNICATIONS
  • 2013-11-03. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression in NATURE MEDICINE
  • 2019-05-31. A catalog of genetic loci associated with kidney function from analyses of a million individuals in NATURE GENETICS
  • 2018-10-30. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease in BMC NEPHROLOGY
  • 2013-05-28. Heritability, determinants and reference values of renal length: a family-based population study in EUROPEAN RADIOLOGY
  • 2016-12-03. Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine in PFLÜGERS ARCHIV - EUROPEAN JOURNAL OF PHYSIOLOGY
  • 2008-01-17. Hyperhomocysteinemia and recurrent carotid stenosis in BMC CARDIOVASCULAR DISORDERS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00424-022-02733-4

    DOI

    http://dx.doi.org/10.1007/s00424-022-02733-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1149764878

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/35881244


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