ArticlePLoS genetics2015
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 6 of them syntheses that pooled it.
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Who cites it
58 citing papers in PubMed, 6 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Meta-analysis of urinary metabolite GWAS studies identifies novel genome-wide significant loci.Scientific reports · 2025Pooled it
- Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.Nature communications · 2025Pooled it
- Causal relationships of metabolites with allergic diseases: a trans-ethnic Mendelian randomization study.Respiratory research · 2024Pooled it
- A catalog of genetic loci associated with kidney function from analyses of a million individuals.Nature genetics · 2019Pooled it
- Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know?Genetic epidemiology · 2016Pooled it
- Trial
- Genome-wide association studies of missing metabolite measures from two population-based studies.Genome biology · 2026Article
- Discovery of urinary metabolite biomarkers of psychiatric disorders using two-sample Mendelian randomization.BMC psychiatry · 2026Article
- Transcriptional mechanisms of sex-biased gene expression and their connections to disease-associated variation.Human molecular genetics · 2026Article
- Dogs and humans share biomarkers of mortality.The journals of gerontology. Series A, Biological sciences and medical sciences · 2026Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Estimating metabolite networks subject to dietary preferences and lifestyle.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Dissecting genetic regulation of metabolic coordination.Briefings in bioinformatics · 2025Article
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
- Regulation of Human Endogenous Metabolites by Drug Transporters and Drug Metabolizing Enzymes: An Analysis of Targeted SNP-Metabolite Associations.Metabolites · 2023Article
- Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.Human genomics · 2022Article
- GABA signaling enforces intestinal germinal center B cell differentiation.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights.Metabolites · 2022Article
- Network Approaches to Integrate Analyses of Genetics and Metabolomics Data with Applications to Fetal Programming Studies.Metabolites · 2022Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies with metabolic traits (mGWAS) uncovered many genetic variants that influence human metabolism. These genetically influenced metabotypes (GIMs) contribute to our metabolic individuality, our capacity to respond to environmental challenges, and our susceptibility to specific diseases. While metabolic homeostasis in blood is a well investigated topic in large mGWAS with over 150 known loci, metabolic detoxification through urinary excretion has only been addressed by few small mGWAS with only 11 associated loci so far. Here we report the largest mGWAS to date, combining targeted and non-targeted 1H NMR analysis of urine samples from 3,861 participants of the SHIP-0 cohort and 1,691 subjects of the KORA F4 cohort. We identified and replicated 22 loci with significant associations with urinary traits, 15 of which are new (HIBCH, CPS1, AGXT, XYLB, TKT, ETNPPL, SLC6A19, DMGDH, SLC36A2, GLDC, SLC6A13, ACSM3, SLC5A11, PNMT, SLC13A3). Two-thirds of the urinary loci also have a metabolite association in blood. For all but one of the 6 loci where significant associations target the same metabolite in blood and urine, the genetic effects have the same direction in both fluids. In contrast, for the SLC5A11 locus, we found increased levels of myo-inositol in urine whereas mGWAS in blood reported decreased levels for the same genetic variant. This might indicate less effective re-absorption of myo-inositol in the kidneys of carriers. In summary, our study more than doubles the number of known loci that influence urinary phenotypes. It thus allows novel insights into the relationship between blood homeostasis and its regulation through excretion. The newly discovered loci also include variants previously linked to chronic kidney disease (CPS1, SLC6A13), pulmonary hypertension (CPS1), and ischemic stroke (XYLB). By establishing connections from gene to disease via metabolic traits our results provide novel hypotheses about molecular mechanisms involved in the etiology of diseases.
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