GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

• Published in: Nature communications Vol. 12; no. 1; pp. 4571 - 14
• Main Authors: Ward, Lucas D., Tu, Ho-Chou, Quenneville, Chelsea B., Tsour, Shira, Flynn-Carroll, Alexander O., Parker, Margaret M., Deaton, Aimee M., Haslett, Patrick A. J., Lotta, Luca A., Verweij, Niek, Ferreira, Manuel A. R., Baras, Aris, Hinkle, Gregory, Nioi, Paul
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 27.07.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 45/43; 631/208/205/2138; 692/698/2741/288/2032; 692/699/1503/1607; 692/699/67/1504/1329/1326; Alanine; Alanine transaminase; Alanine Transaminase - blood; Anemia; Aspartate aminotransferase; Aspartate Aminotransferases - blood; Bile ducts; Cation Transport Proteins - genetics; Cation Transport Proteins - metabolism; Cholangiocarcinoma; Cirrhosis; Dystonia; Enzymes; Gene Expression Regulation; Genetic diversity; Genetic Linkage; Genetic Loci; Genome, Human; Genome-wide association studies; Genome-Wide Association Study; Genomes; HeLa Cells; Hematocrit; Heterozygote; Homeostasis; Humanities and Social Sciences; Humans; Iron deficiency; Liver; Liver - pathology; Liver cirrhosis; Liver diseases; Manganese; Manganese - blood; Manganese - metabolism; Molecular Sequence Annotation; multidisciplinary; Mutation - genetics; Nutrient deficiency; Phenotype; Reproducibility of Results; Science; Science (multidisciplinary); Signs and symptoms

Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 lo...