Figure 1
Three experimental designs integrating genomic and metabolomic analysis. (a) Metabolic profiling applied to the diagnosis and study of human Mendelian diseases frequently identifies direct, casual relationships between genetic variants and downstream accumulation or deficiency of metabolic intermediates, which may vary or progress over time. (b) QTL mapping of single quantified metabolites can identify strong associations between metabolite concentration and polymorphisms, though frequently additional, weaker associations with other alleles are discovered as well. (c) mQTL and mGWAS studies are conceptually similar to QTL studies of individual metabolites, but search for associations between many metabolites and many genes, frequently yielding a larger set of associations between genetic polymorphisms and metabolite concentrations or ratios.