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Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality

Fig 1

Study design.

(a) Genotyping and metabotyping of 3,861 SHIP-0 study participants. One-dimensional 1H NMR spectra of the urine samples were recorded to derive targeted and non-targeted metabolic traits. (b) Two-staged mGWAS. First stage: genome-wide association tests using genotyped SNPs and 15,379 targeted and non-targeted traits. Second stage: fine mapping of regions with potentially significant associations using imputed SNPs. (c) Replication and interpretation. Genome-wide significantly associated SNPs were assigned to one of 23 distinct genetic loci. The loci and the significantly associated non-targeted traits were annotated using algorithmic approaches. 22 of the 23 loci could be replicated using genotype and metabotype data from 1,691 KORA F4 participants.

Fig 1