Werner Römisch-Margl

TL;DR: A comprehensive analysis of genotype-dependent metabolic phenotypes using a genome-wide association study with non-targeted metabolomics to identify genetic loci associated with blood metabolite concentrations and generates many new hypotheses for biomedical and pharmaceutical research.

TL;DR: A genome-wide association study of 163 metabolic traits measured in human blood from 1,809 participants from the KORA population, with replication in 422 participants of the TwinsUK cohort, finding genetic variant is located in or near genes encoding enzymes or solute carriers whose functions match the associating metabolic traits.

TL;DR: It is shown that physiological challenges increased interindividual variation even in phenotypically similar volunteers, revealing metabotypes not observable in baseline metabolite profiles; volunteer‐specific metabolite concentrations were consistently reflected in various biofluids; and readouts from a systematic model of β‐oxidation showed significant and stronger associations with physiological parameters than absolute metabolite concentration.

TL;DR: It is shown that for most metabolites a simple methanolic extraction is best suited for reliable results and an additional extraction step with phosphate buffer can be used to improve the extraction yields for a few more polar metabolites.

TL;DR: The results indicate that metabolic profiles are age dependent and might reflect different aging processes, such as incomplete mitochondrial fatty acid oxidation.