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

Chen, Vincent L; Du, Xiaomeng; Chen, Yanhua; Kuppa, Annapurna; Handelman, Samuel K; Vohnoutka, Rishel B; Peyser, Patricia A; Palmer, Nicholette D et al. · Nat Commun · 2021

meta_analysis · Level I

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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.

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