15 Novel Loci of Urinary Human Metabolic Individuality

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Human metabolism is influenced by genetic and environmental factors defining a person’s metabolic individuality. This individuality is linked to personal differences in the ability to react on metabolic challenges and in the susceptibility to specific diseases. By investigating how common variants in genetic regions (loci) affect individual blood metabolite levels, the substantial contribution of genetic inheritance to metabolic individuality has been demonstrated previously. Meanwhile, more than 150 loci influencing metabolic homeostasis in blood are known. Here we shift the focus to genetic variants that modulate urinary metabolite excretion, for which only 11 loci were reported so far. In the largest genetic study on urinary metabolites to date, we identified 15 additional loci. Most of the 26 loci also affect blood metabolite levels. This shows that the metabolic individuality seen in blood is also reflected in urine, which is expected when urine is regarded as “diluted blood”. Nonetheless, we also found loci that appear to primarily influence metabolite excretion. For instance, we identified genetic variants near a gene of a transporter that change the capability for renal re-absorption of the transporter’s substrate. Thus, our findings could help to elucidate molecular mechanisms influencing kidney function and the body’s detoxification capabilities.

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