Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology

oleh: Vincent L. Chen, Xiaomeng Du, Yanhua Chen, Annapurna Kuppa, Samuel K. Handelman, Rishel B. Vohnoutka, Patricia A. Peyser, Nicholette D. Palmer, Lawrence F. Bielak, Brian Halligan, Elizabeth K. Speliotes

Format: Article
Diterbitkan: Nature Portfolio 2021-02-01

Deskripsi

Abstract Serum liver enzyme concentrations are the most frequently-used laboratory markers of liver disease, a major cause of mortality. We conduct a meta-analysis of genome-wide association studies of liver enzymes from UK BioBank and BioBank Japan. We identified 160 previously-unreported independent alanine aminotransferase, 190 aspartate aminotransferase, and 199 alkaline phosphatase genome-wide significant associations, with some affecting multiple different enzymes. Associated variants implicate genes that demonstrate diverse liver cell type expression and promote a range of metabolic and liver diseases. These findings provide insight into the pathophysiology of liver and other metabolic diseases that are associated with serum liver enzyme concentrations.