rs11866656 - CNOT1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology. - Nature communications (2021) · Chen VL, Du X, Chen Y, Kuppa A, Handelman SK, Vohnoutka RB, Peyser PA, Palmer ND, Bielak LF, Halligan B, Speliotes EK · PubMed 33547301

  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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