We leverage tandem mass spectrometry to annotate unknown metabolites, providing new insight into hereditary diseases including transthyretin amyloidosis and sickle cell disease.

A significant proportion of these associations are in ancestry specific alleles including findings in APOE, TTR and CD36. We identify 519 locus-metabolite associations for 427 metabolite peaks and validate our findings in two multi-ethnic cohorts. Here, we perform a whole genome association study of 2,291 metabolite peaks (known and unknown features) in 2,466 Black individuals from the Jackson Heart Study. In addition, these analyses have principally involved known metabolites, with the majority of the profiled peaks left unannotated. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage genomic diversity for discovery. Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. Nature Communications volume 13, Article number: 4923 ( 2022) NHLBI Trans-Omics for Precision Medicine 1 Consortium,.

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals

Black Blood by S.D. Grimm