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- Title
Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.
- Authors
Valo, Erkka; Richmond, Anne; Mutter, Stefan; Dahlström, Emma H.; Campbell, Archie; Porteous, David J.; Wilson, James F.; FinnDiane Study Group; Groop, Per-Henrik; Hayward, Caroline; Sandholm, Niina
- Abstract
Dissecting the genetic mechanisms underlying urinary metabolite concentrations can provide molecular insights into kidney function and open possibilities for causal assessment of urinary metabolites with risk factors and disease outcomes. Proton nuclear magnetic resonance metabolomics provides a high-throughput means for urinary metabolite profiling, as widely applied for blood biomarker studies. Here we report a genome-wide association study meta-analysed for 3 European cohorts comprising 8,011 individuals, covering both people with type 1 diabetes and general population settings. We identify 54 associations (p −10) for 19 of 54 studied metabolite concentrations. Out of these, 33 were not reported previously for relevant urinary or blood metabolite traits. Subsequent two-sample Mendelian randomization analysis suggests that estimated glomerular filtration rate causally affects 13 urinary metabolite concentrations whereas urinary ethanolamine, an initial precursor for phosphatidylcholine and phosphatidylethanolamine, was associated with higher eGFR lending support for a potential protective role. Our study provides a catalogue of genetic associations for 53 metabolites, enabling further investigation on how urinary metabolites are linked to human health. Here, the authors identified genetic variants associated with urinary metabolites in 8,011 individuals. Further causal analysis suggested estimated kidney filtration rate (eGFR) affected 13 metabolites while ethanolamine was associated with higher eGFR.
- Subjects
PROTON magnetic resonance; DISEASE risk factors; MENDELIAN randomization; GENOME-wide association studies; NUCLEAR magnetic resonance
- Publication
Nature Communications, 2025, Vol 16, p1
- ISSN
2041-1723
- Publication type
Academic Journal
- DOI
10.1038/s41467-024-55182-1