Observational studyNature genetics2020
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.
Observational study in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 10 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
85 citing papers in PubMed, 10 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis.Nature genetics · 2026Pooled it
- 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
- Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites.Cell genomics · 2025Pooled it
- Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.Nature communications · 2025Pooled it
- A resource for integrated genomic analysis of the human liver.Scientific reports · 2022Pooled it
- Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.Kidney international · 2022Pooled it
- Meta-analyses identify DNA methylation associated with kidney function and damage.Nature communications · 2021Pooled it
- Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.Nature communications · 2021Pooled it
- Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.European heart journal · 2021Pooled it
- Association of Physical Activity With Bioactive Lipids and Cardiovascular Events.Circulation research · 2022Trial
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Lactate as a Chemical Modification on Proteins and Metabolites.Annual review of biochemistry · 2026Review
- Discovery of urinary metabolite biomarkers of psychiatric disorders using two-sample Mendelian randomization.BMC psychiatry · 2026Article
- Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.Acta physiologica (Oxford, England) · 2026Article
- Cathepsin H drives hypoxia-associated inflammatory and angiogenic programs in diabetic retinopathy and represents a potential therapeutic target.International journal of biological sciences · 2026Article
- Article
- Nuclear magnetic resonance combined with genetic algorithm with linear discriminant analysis (GA-LDA) is a suitable model for discriminating urinary metabolomic profiles of individuals with glycemic disorders.Annals of medicine · 2025Article
- Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 5 institutions in 4 countries.
Funding
Abstract
The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites. To identify underlying molecular mechanisms, we performed genome-wide association studies of the urinary concentrations of 1,172 metabolites among 1,627 patients with reduced kidney function. The 240 unique metabolite-locus associations (metabolite quantitative trait loci, mQTLs) that were identified and replicated highlight novel candidate substrates for transport proteins. The identified genes are enriched in ADME-relevant tissues and cell types, and they reveal novel candidates for biotransformation and detoxification reactions. Fine mapping of mQTLs and integration with single-cell gene expression permitted the prioritization of causal genes, functional variants and target cell types. The combination of mQTLs with genetic and health information from 450,000 UK Biobank participants illuminated metabolic mediators, and hence, novel urinary biomarkers of disease risk. This comprehensive resource of genetic targets and their substrates is informative for ADME processes in humans and is relevant to basic science, clinical medicine and pharmaceutical research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.