ArticlePLoS genetics2014
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 4 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 4 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.Kidney international · 2022Pooled it
- Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.PLoS genetics · 2016Pooled it
- Discovery of urinary metabolite biomarkers of psychiatric disorders using two-sample Mendelian randomization.BMC psychiatry · 2026Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
- Metabologenomics and network pharmacology to understand the molecular mechanism of cancer research.World journal of clinical cases · 2024Article
- Article
- Fucosylated TLR4 mediates communication between mutualist fucotrophic microbiota and mammalian gut mucosa.Frontiers in medicine · 2023Article
- Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.Human genomics · 2022Article
- Biallelic Variants inInternational journal of molecular sciences · 2022Article
- Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.Metabolites · 2022Article
- Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine.Journal of proteome research · 2021Article
- Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.BMC medicine · 2021Article
- Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease.Genome biology · 2021Article
- Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations.Communications biology · 2021Article
- Urinary metabolic phenotyping for Alzheimer's disease.Scientific reports · 2020Article
- Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.Network and systems medicine · 2020Article
- A population-based resource for intergenerational metabolomics analyses in pregnant women and their children: the Generation R Study.Metabolomics : Official journal of the Metabolomic Society · 2020Article
Corrections and comments
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Authors and funding
22 authors at 12 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metabolic traits are molecular phenotypes that can drive clinical phenotypes and may predict disease progression. Here, we report results from a metabolome- and genome-wide association study on (1)H-NMR urine metabolic profiles. The study was conducted within an untargeted approach, employing a novel method for compound identification. From our discovery cohort of 835 Caucasian individuals who participated in the CoLaus study, we identified 139 suggestively significant (P<5×10(-8)) and independent associations between single nucleotide polymorphisms (SNP) and metabolome features. Fifty-six of these associations replicated in the TasteSensomics cohort, comprising 601 individuals from São Paulo of vastly diverse ethnic background. They correspond to eleven gene-metabolite associations, six of which had been previously identified in the urine metabolome and three in the serum metabolome. Our key novel findings are the associations of two SNPs with NMR spectral signatures pointing to fucose (rs492602, P = 6.9×10(-44)) and lysine (rs8101881, P = 1.2×10(-33)), respectively. Fine-mapping of the first locus pinpointed the FUT2 gene, which encodes a fucosyltransferase enzyme and has previously been associated with Crohn's disease. This implicates fucose as a potential prognostic disease marker, for which there is already published evidence from a mouse model. The second SNP lies within the SLC7A9 gene, rare mutations of which have been linked to severe kidney damage. The replication of previous associations and our new discoveries demonstrate the potential of untargeted metabolomics GWAS to robustly identify molecular disease markers.
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