Genetic effects on serum and urine metabolites across ancestries and their links to disease

A multi-ancestry GWAS in 4,431 Atherosclerosis Risk in Communities participants identifies 969 mQTLs across 1,955 serum and urine metabolites, including 30% not seen in matched studies.

• Why it matters: Prior metabolome GWAS focused on European ancestry and a single biofluid, limiting mQTL discovery and reducing finemapping resolution for causal variants.
• What they did: The study analyzed 1,955 metabolites in European American and African American participants, then replicated 91–99% of testable mQTLs in two independent cohorts and performed multi-ancestry finemapping and colocalization with Million Veteran Program phenotypes.
• The result: In African Americans, 36% of mQTL-linked metabolites are serum-specific and 39% urine-specific, and allele frequency differences highlight functional variants like an SLC28A1 splice variant increasing urine uridine excretion; multi-ancestry finemapping improves credible sets and colocalization links the catalog to cardiometabolic, kidney, and liver traits.

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