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.
Guardado en:
Autores principales: | , , , , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/b5d5b7f5988e4fe4b8e179a7a1c34fcb |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:b5d5b7f5988e4fe4b8e179a7a1c34fcb |
---|---|
record_format |
dspace |
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 |
work_keys_str_mv |
AT yurongcheng raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT pascalschlosser raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT johanneshertel raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT peggysekula raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT peterjoefner raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT utespiekerkoetter raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT johannamielke raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT danielffreitag raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT miriamschmidts raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT gckdinvestigators raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT floriankronenberg raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT kaiuweeckardt raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT inesthiele raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT yongli raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism AT annakottgen raregeneticvariantsaffectingurinemetabolitelevelslinkpopulationvariationtoinbornerrorsofmetabolism |
_version_ |
1718391864497799168 |