Related Experiment Video
Updated: Jun 2, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
A genome-wide association study of metabolic traits in human urine
Karsten Suhre1, Henri Wallaschofski, Johannes Raffler
1Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. karsten@suhre.fr
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.
More Related Videos
Related Concept Videos
Urine Studies I: Urinalysis
Microbiota of the Urogenital Tract
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Urine Studies II: Urine Culture and Sensitivity Test
Physiology of Urine Formation
Glomerular Filtration
The first stage in urine formation is glomerular filtration. Each kidney contains approximately 1 million nephrons, the functional units of filtration, with a...

