Mechanistic insights from combining genomics with metabolomics

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Purpose of review

Metabolomics directly measure substrates and products of biological processes and pathways. Based on instrumentation and throughput advances, the use of metabolomics has only recently become feasible at the population level. This has led to an intense interest in using the new information in combination with genomics, and other omics technologies, to give biological context to the rapidly accumulating associations between genes and diseases or their risk factors.

Recent findings

The use of metabolomics-genomic associations for the metabolic characterization of genes of interest has confirmed known pathways and permitted the identification of new ones. These include the unknown metabolite X12063 linking statins to myopathies, the role of glycerophospholipids in cholesterol metabolism, the structure of lipoprotein (a), the lipoprotein lipase-independent effect of Apolipoprotein C-III coding and the role of branched chain amino acids in the antagonistic coregulation of levels of HDLs and triglyceride.


The findings reviewed illustrate the importance of integrating metabolomics and genomics for the greater understanding of biological mechanisms. The limitations of the current approaches are also discussed together with approaches that will be required to make the most of the current multiomics data available.

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