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

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Published inNature 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
LanguageEnglish
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
Online AccessGet full text

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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. Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.
AbstractList 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.Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.
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. Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.
Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.
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.
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.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.
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.
ArticleNumber 4571
Author Haslett, Patrick A. J.
Ferreira, Manuel A. R.
Parker, Margaret M.
Hinkle, Gregory
Verweij, Niek
Deaton, Aimee M.
Quenneville, Chelsea B.
Flynn-Carroll, Alexander O.
Baras, Aris
Lotta, Luca A.
Nioi, Paul
Tu, Ho-Chou
Tsour, Shira
Ward, Lucas D.
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/34315874$$D View this record in MEDLINE/PubMed
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Snippet Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine...
Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the...
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SubjectTerms 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
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Title GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms
URI https://link.springer.com/article/10.1038/s41467-021-24563-1
https://www.ncbi.nlm.nih.gov/pubmed/34315874
https://www.proquest.com/docview/2555483150
https://www.proquest.com/docview/2555965166
https://pubmed.ncbi.nlm.nih.gov/PMC8316433
https://doaj.org/article/f13505aebcc04860b9176de8ff12e468
Volume 12
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