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UMOD and the architecture of kidney disease
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 chro...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338900/ https://www.ncbi.nlm.nih.gov/pubmed/35881244 http://dx.doi.org/10.1007/s00424-022-02733-4 |
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author | Devuyst, Olivier Bochud, Murielle Olinger, Eric |
author_facet | Devuyst, Olivier Bochud, Murielle Olinger, Eric |
author_sort | Devuyst, Olivier |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9338900 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-93389002022-08-01 UMOD and the architecture of kidney disease Devuyst, Olivier Bochud, Murielle Olinger, Eric Pflugers Arch Invited Review 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. Springer Berlin Heidelberg 2022-07-26 2022 /pmc/articles/PMC9338900/ /pubmed/35881244 http://dx.doi.org/10.1007/s00424-022-02733-4 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Invited Review Devuyst, Olivier Bochud, Murielle Olinger, Eric UMOD and the architecture of kidney disease |
title | UMOD and the architecture of kidney disease |
title_full | UMOD and the architecture of kidney disease |
title_fullStr | UMOD and the architecture of kidney disease |
title_full_unstemmed | UMOD and the architecture of kidney disease |
title_short | UMOD and the architecture of kidney disease |
title_sort | umod and the architecture of kidney disease |
topic | Invited Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338900/ https://www.ncbi.nlm.nih.gov/pubmed/35881244 http://dx.doi.org/10.1007/s00424-022-02733-4 |
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