Metabolomics platforms for genome wide association studies—linking the genome to the metabolome

Genome-wide association studies (GWAS) reveal links between genetic variance and predisposition to disease. With the advent of modern ‘omics-technologies’, GWAS can now identify the genetic factors that influence intermediate traits on pathways to disease, such as blood concentrations of carbohydrates, lipids, amino acids, and secondary metabolites, hormones and signal molecules. At the example of recent GWAS with metabolic traits (mGWAS) we review the high-throughput screening approaches that are available to further advance the field.

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► Genome-wide association studies with metabolomics constitute mGWAS.
► mGWAS provide insights into genetic and environmental impact on metabolic processes.
► We review essential strategies for mGWAS.
► Examples of mGWAS in large cohort studies are discussed.