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:

Detalles Bibliográficos
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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
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

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

Ejemplares similares