ArticleNature communications2021
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 7 citations in OpenAlex.
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- Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.Hypertension (Dallas, Tex. : 1979) · 2026Article
- Excessive CabioRxiv : the preprint server for biology · 2026Article
- Novel anxiolytic-antidepressant combinations TF-1 and TF-2 and their intervention mechanisms in a mouse model of comorbid anxiety and depression (CAD).Frontiers in pharmacology · 2026Article
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data.Communications biology · 2025Article
- Inflammation May Mediate the Effects of Fluoride on Liver and Kidney Function of Adults: Cross-Sectional Studies in China.Biological trace element research · 2025Article
- Multi-cohort genome-wide association analyses reveal loci underlying circulating liver enzyme levels in African-ancestry populations.Research square · 2025Article
- Liver diseases, transaminases, and hepatobiliary-pancreatic cancer risk: a cohort and Mendelian randomisation study using data from UK Biobank.BMJ open gastroenterology · 2025Article
- RNA interference versus antibody-based PCSK9 inhibition for the prevention of cardiovascular disease: a drug-target Mendelian randomization study.Cardiovascular research · 2025Article
- Reshape the Fates of Treg and CD8+T Cells Through IL-2Rα by Synergizing Divergent Receptor-Biased IL-2 PEGylates.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.Genome biology · 2025Article
- A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population.Scientific reports · 2025Article
- INSTINCT: Multi-sample integration of spatial chromatin accessibility sequencing data via stochastic domain translation.Nature communications · 2025Article
- Liquid Crystal Microcavity Biosensors for Real-Time Liver Injury Monitoring via Whispering Gallery Mode Laser.Research (Washington, D.C.) · 2025Article
- Blood cell counts and nonalcoholic fatty liver disease: Evidence from Mendelian randomization analysis.World journal of hepatology · 2024Article
- Manganese Exacerbates ConA-Induced Liver Inflammation via the cGAS-STING Signaling Pathway.Inflammation · 2024Article
- The nanoprodrug of polytemozolomide combines with MGMT siRNA to enhance the effect of temozolomide in glioma.Drug delivery · 2023Article
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
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 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates with the largest elevation of both enzymes, and this association replicates in the DiscovEHR study. SLC30A10 excretes manganese from the liver to the bile duct, and rare homozygous loss of function causes the syndrome hypermanganesemia with dystonia-1 (HMNDYT1) which involves cirrhosis. Consistent with hematological symptoms of hypermanganesemia, SLC30A10 Thr95Ile carriers have increased hematocrit and risk of iron deficiency anemia. Carriers also have increased risk of extrahepatic bile duct cancer. These results suggest that genetic variation in SLC30A10 adversely affects more individuals than patients with diagnosed HMNDYT1.
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