Researchers at the Institute of Genetics and Cancer (IGC) and the University of Helsinki identified 54 genetic associations with the levels of different metabolites in urine. Image credit: Blue cinema via Getty Images Urinary metabolites are substances that remain in the urine after being processed and broken down as part of normal kidney function. Dissecting the genetic mechanisms underlying the level of metabolites found in urine can provide molecular insights into how kidneys function and open possibilities for using urinary metabolites as non-invasive biomarkers for health risk factors associated with kidney disease. A team of researchers, led by Emeritus Professor Caroline Hayward of the IGC, University of Edinburgh, and Dr Niina Sandholm of the University of Helsinki, carried out a genome-wide association study aiming to identify genetic links to 54 different metabolites measured with the Nightingale Health urine NMR platform.Researchers investigated urine samples collected from over 8,000 individuals from three European cohorts - covering both people with type 1 diabetes (FinnDiane) and from general population settings (Generation Scotland, Viking Genes).They identified 54 genetic associations for 19 of 54 studied metabolites. Out of these, 33 were new findings and had not been reported previously for either urinary or blood metabolite traits. Subsequent analysis suggests that the estimated glomerular filtration rate (the rate at which the blood passes through the glomeruli of the kidneys that filter waste and a measure of how well the kidneys are working) causally affects 13 of these urinary metabolite concentrations. Additionally, levels of the metabolite ethanolamine were associated with a higher and healthier estimated glomerular filtration rate – suggesting that it has a potential protective role for kidney function. These findings were published in the journal Nature Communications in an article entitled ’Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function’. Click here to read the article (external link) This has a been very productive and enjoyable collaboration between researchers from Edinburgh and Helsinki. These findings provide new insights into the impact of urinary metabolites in human health and disease and will provide a sound foundation for future research. Emeritus Professor Caroline Hayward LinksCaroline Hayward Research Explorer pageViking GenesGeneration Scotland Tags 2025 Publication date 14 Mar, 2025
