A genome-wide association study of metabolic traits in human urine

Karsten Suhre and colleagues report a genome-wide association study of metabolic traits in human urine, using NMR spectrometry to measure 59 metabolites in urine from participants. They identify five loci influencing urine metabolite levels and point to a missense variant in AGXT2 as the likely caus...

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Bibliographic Details
Published in:Nature genetics Vol. 43; no. 6; pp. 565 - 569
Main Authors: Suhre, Karsten, Wallaschofski, Henri, Raffler, Johannes, Friedrich, Nele, Haring, Robin, Michael, Kathrin, Wasner, Christina, Krebs, Alexander, Kronenberg, Florian, Chang, David, Meisinger, Christa, Wichmann, H-Erich, Hoffmann, Wolfgang, Völzke, Henry, Völker, Uwe, Teumer, Alexander, Biffar, Reiner, Kocher, Thomas, Felix, Stephan B, Illig, Thomas, Kroemer, Heyo K, Gieger, Christian, Römisch-Margl, Werner, Nauck, Matthias
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.06.2011
Nature Publishing Group
Subjects:
631/208/205/2138
631/208/2489/144
631/443/319
Agriculture
Amino Acid Transport Systems, Basic - genetics
Aminoisobutyric Acids - urine
Animal Genetics and Genomics
Arylamine N-Acetyltransferase - genetics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Cancer Research
Chronic kidney failure
Detoxification
Disease
Enzymes
Fundamental and applied biological sciences. Psychology
Gene Function
Gene loci
Genes
Genetic aspects
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genome-Wide Association Study
Genomes
Genomics
Health sciences
Homeostasis
Human Genetics
Humans
Kidney - metabolism
letter
Magnetic Resonance Spectroscopy
Male
Membrane Transport Proteins - genetics
Metabolites
Nuclear magnetic resonance spectroscopy
Physiological aspects
Polymorphism, Single Nucleotide
Population Surveillance
Reproducibility of Results
Risk factors
Studies
Urine
Germany
Human
Urine
Association
ISSN:1061-4036, 1546-1718, 1546-1718
Online Access:Get full text
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Summary:Karsten Suhre and colleagues report a genome-wide association study of metabolic traits in human urine, using NMR spectrometry to measure 59 metabolites in urine from participants. They identify five loci influencing urine metabolite levels and point to a missense variant in AGXT2 as the likely cause of hyper-β-aminoisobutyric aciduria, a common inborn error of metabolism. We present a genome-wide association study of metabolic traits in human urine, designed to investigate the detoxification capacity of the human body. Using NMR spectroscopy, we tested for associations between 59 metabolites in urine from 862 male participants in the population-based SHIP study. We replicated the results using 1,039 additional samples of the same study, including a 5-year follow-up, and 992 samples from the independent KORA study. We report five loci with joint P values of association from 3.2 × 10 −19 to 2.1 × 10 −182 . Variants at three of these loci have previously been linked with important clinical outcomes: SLC7A9 is a risk locus for chronic kidney disease, NAT2 for coronary artery disease and genotype-dependent response to drug toxicity, and SLC6A20 for iminoglycinuria. Moreover, we identify rs37369 in AGXT2 as the genetic basis of hyper-β-aminoisobutyric aciduria.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.837