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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 3

Loci with associated urinary metabolic traits and their overlap with previous mGWAS in blood and urine.

We identified and replicated genome-wide significant associations between metabolic traits and genetic variants in 22 genetic loci (named after the most likely causative gene). Three loci could only be identified using targeted metabolic traits, while 7 loci were exclusively discovered with non-targeted traits. 12 loci were identified using both targeted and non-targeted approaches. Loci with hitherto unknown associations with urinary metabolic traits are highlighted (totaling 15). We identified and replicated significant associations in 7 of the 11 loci that were reported in previous mGWAS in urine [5, 1012]. We also discovered significant associations of the ABO locus (marked with an asterisk) with non-targeted traits, but this locus could not be replicated in KORA F4. When compared to previous mGWAS in blood, we find 14 loci that display associations with metabolic traits in both urine and blood [1, 4, 68, 1424].

Fig 3

doi: https://doi.org/10.1371/journal.pgen.1005487.g003