title: A genome-wide association study of metabolic traits in human urine.
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.
authors.affiliation: Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. karsten@suhre.fr
authors.forename: Karsten
authors.initials: K
authors.lastname: Suhre
authors.forename: Henri
authors.initials: H
authors.lastname: Wallaschofski
authors.forename: Johannes
authors.initials: J
authors.lastname: Raffler
authors.forename: Nele
authors.initials: N
authors.lastname: Friedrich
authors.forename: Robin
authors.initials: R
authors.lastname: Haring
authors.forename: Kathrin
authors.initials: K
authors.lastname: Michael
authors.forename: Christina
authors.initials: C
authors.lastname: Wasner
authors.forename: Alexander
authors.initials: A
authors.lastname: Krebs
authors.forename: Florian
authors.initials: F
authors.lastname: Kronenberg
authors.forename: David
authors.initials: D
authors.lastname: Chang
authors.forename: Christa
authors.initials: C
authors.lastname: Meisinger
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hoffmann
authors.forename: Henry
authors.initials: H
authors.lastname: Völzke
authors.forename: Uwe
authors.initials: U
authors.lastname: Völker
authors.forename: Alexander
authors.initials: A
authors.lastname: Teumer
authors.forename: Reiner
authors.initials: R
authors.lastname: Biffar
authors.forename: Thomas
authors.initials: T
authors.lastname: Kocher
authors.forename: Stephan B
authors.initials: SB
authors.lastname: Felix
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Heyo K
authors.initials: HK
authors.lastname: Kroemer
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
authors.forename: Werner
authors.initials: W
authors.lastname: Römisch-Margl
authors.forename: Matthias
authors.initials: M
authors.lastname: Nauck
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics; D000621:Aminoisobutyric Acids / Q000652:urine; D001191:Arylamine N-Acetyltransferase / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance; D015203:Reproducibility of Results
chemical_list: D026923:Amino Acid Transport Systems, Basic; D000621:Aminoisobutyric Acids; D026901:Membrane Transport Proteins; C431703:SLC6A20 protein, human; C499489:SLC7A9 protein, human; D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human; C033435:3-aminoisobutyric acid