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PMID: 21572414 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 43 ·No. 6 ·2011-06-00 ·Pages 565-9

Suhre K, Wallaschofski H, Raffler J, Friedrich N, Haring R, Michael K, Wasner C, Krebs A, Kronenberg F, Chang D, Meisinger C, Wichmann HE, Hoffmann W, Völzke H, Völker U, Teumer A, Biffar R, Kocher T, Felix SB, Illig T, Kroemer HK, Gieger C, Römisch-Margl W, Nauck M

Abstract

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.

MeSH Terms
Amino Acid Transport Systems, Basic/genetics Aminoisobutyric Acids/urine Arylamine N-Acetyltransferase/genetics Genome-Wide Association Study Humans Kidney/metabolism Magnetic Resonance Spectroscopy Male Membrane Transport Proteins/genetics Polymorphism, Single Nucleotide Population Surveillance Reproducibility of Results
Chemicals
Amino Acid Transport Systems, Basic Aminoisobutyric Acids Membrane Transport Proteins SLC6A20 protein, human SLC7A9 protein, human Arylamine N-Acetyltransferase NAT2 protein, human 3-aminoisobutyric acid
Authors & Affiliations
24 authors, click to expand affiliations / ORCID
Suhre Karsten
Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. [email protected]
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
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.837
Email
[email protected]
Published
2011-06-00
Epub
2011-00-15
Pages
565-9
Language
English
Region
United States
NLM ID
9216904
Subset
IM
External Links
PubMed source DOI: 10.1038/ng.837 View journal details
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