Schlosser, Pascal and Scherer, Nora and Grundner-Culemann, Franziska and Monteiro-Martins, Sara and Haug, Stefan and Steinbrenner, Inga and Uluvar, Burulca and Wuttke, Matthias and Cheng, Yurong and Ekici, Arif B. and Gyimesi, Gergely and Karoly, Edward D. and Kotsis, Fruzsina and Mielke, Johanna and Gomez, Maria F. and Yu, Bing and Grams, Morgan E. and Coresh, Josef and Boerwinkle, Eric and Kottgen, Michael and Kronenberg, Florian and Meiselbach, Heike and Mohney, Robert P. and Akilesh, Shreeram and Schmidts, Miriam and Hediger, Matthias A. and Schultheiss, Ulla T. and Eckardt, Kai-Uwe and Oefner, Peter J. and Sekula, Peggy and Li, Yong and Koettgen, Anna (2023) Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. NATURE PORTFOLIO, BERLIN.
Full text not available from this repository. (Request a copy)Abstract
The kidneys operate at the interface of plasma and urine by clearing molecular waste products while retaining valuable solutes. Genetic studies of paired plasma and urine metabolomes may identify underlying processes. We conducted genome-wide studies of 1,916 plasma and urine metabolites and detected 1,299 significant associations. Associations with 40% of implicated metabolites would have been missed by studying plasma alone. We detected urine-specific findings that provide information about metabolite reabsorption in the kidney, such as aquaporin (AQP)-7-mediated glycerol transport, and different metabolomic footprints of kidney-expressed proteins in plasma and urine that are consistent with their localization and function, including the transporters NaDC3 (SLC13A3) and ASBT (SLC10A2). Shared genetic determinants of 7,073 metabolite-disease combinations represent a resource to better understand metabolic diseases and revealed connections of dipeptidase 1 with circulating digestive enzymes and with hypertension. Extending genetic studies of the metabolome beyond plasma yields unique insights into processes at the interface of body compartments.
| Item Type: | Other |
|---|---|
| Uncontrolled Keywords: | GENOME-WIDE ASSOCIATION; KIDNEY-DISEASE GCKD; GENOTYPE IMPUTATION; RENAL DIPEPTIDASE; VARIANTS; ATLAS; IDENTIFICATION; VISUALIZATION; CHILDREN; ILEAL; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 May 2024 06:16 |
| Last Modified: | 07 May 2024 06:16 |
| URI: | https://pred.uni-regensburg.de/id/eprint/60865 |
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