Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

This large-scale cross-platform, genome-wide meta-analysis of circulating small molecular metabolites (n=86,507) identified numerous novel genome-wide significant associations.

Based on these results, inheritance of circulating blood metabolite levels in the general population is characterized by several factors, such as pleiotropy, allelic heterogeneity, and rare and common variants with large effects. Integration of human genomics and metabolomics data enables efficient discovery of genetic regulators of human metabolism and translation into clinical insight.