Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies.

ABSTRACT: Advancements in large-scale analysis of metabolites in human peripheral blood samples revealed the links between metabolite concentrations and genetic variations. This field is known as metabolome-genome-wide association study (MGWAS). Although MGWAS is a powerful tool, it has some limitations, particularly in terms of the number of metabolites that can be measured. Whether the observed associations are directly due to genetic variation or indirectly due to changes in unmeasured metabolites is unclear. To address this, we used simulations of metabolic pathway models to investigate the influence of genetic variants on metabolite concentrations and enhance the interpretation of MGWAS results. By systematically adjusting the enzyme reaction rates to simulate genetic variants, we observed chan

SUBMITTER: Kodate S 

PROVIDER: S-EPMC12084608 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature