Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on metabolic consequences underlying metabolic disease.

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Autores principales: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
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Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/b5d5b7f5988e4fe4b8e179a7a1c34fcb
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spelling oai:doaj.org-article:b5d5b7f5988e4fe4b8e179a7a1c34fcb2021-12-02T14:11:09ZRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism10.1038/s41467-020-20877-82041-1723https://doaj.org/article/b5d5b7f5988e4fe4b8e179a7a1c34fcb2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20877-8https://doaj.org/toc/2041-1723Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on metabolic consequences underlying metabolic disease.Yurong ChengPascal SchlosserJohannes HertelPeggy SekulaPeter J. OefnerUte SpiekerkoetterJohanna MielkeDaniel F. FreitagMiriam SchmidtsGCKD InvestigatorsFlorian KronenbergKai-Uwe EckardtInes ThieleYong LiAnna KöttgenNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Yurong Cheng
Pascal Schlosser
Johannes Hertel
Peggy Sekula
Peter J. Oefner
Ute Spiekerkoetter
Johanna Mielke
Daniel F. Freitag
Miriam Schmidts
GCKD Investigators
Florian Kronenberg
Kai-Uwe Eckardt
Ines Thiele
Yong Li
Anna Köttgen
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
description Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on metabolic consequences underlying metabolic disease.
format article
author Yurong Cheng
Pascal Schlosser
Johannes Hertel
Peggy Sekula
Peter J. Oefner
Ute Spiekerkoetter
Johanna Mielke
Daniel F. Freitag
Miriam Schmidts
GCKD Investigators
Florian Kronenberg
Kai-Uwe Eckardt
Ines Thiele
Yong Li
Anna Köttgen
author_facet Yurong Cheng
Pascal Schlosser
Johannes Hertel
Peggy Sekula
Peter J. Oefner
Ute Spiekerkoetter
Johanna Mielke
Daniel F. Freitag
Miriam Schmidts
GCKD Investigators
Florian Kronenberg
Kai-Uwe Eckardt
Ines Thiele
Yong Li
Anna Köttgen
author_sort Yurong Cheng
title Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
title_short Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
title_full Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
title_fullStr Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
title_full_unstemmed Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
title_sort rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/b5d5b7f5988e4fe4b8e179a7a1c34fcb
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