ArticleHepatology international2022
A rare genetic variant in the manganese transporter SLC30A10 and elevated liver enzymes in the general population.
Article in Hepatology international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- Real-World Assessment of Liver Corrected T1 and Magnetic Resonance Elastography in Predicting Liver Disease Progression.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Unexplained Chronically Elevated Aminotransferases: Liver Biopsy Gives Major Information with Therapeutic Implication in One Patient Out of Seven.Digestive diseases and sciences · 2025Article
- Manganese-Induced Parkinsonism: Evidence from Epidemiological and Experimental Studies.Biomolecules · 2023Review
- Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.American journal of physiology. Gastrointestinal and liver physiology · 2023Article
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundA genetic variant in the manganese transporter SLC30A10 (rs188273166, p.Thr95Ile) was associated with increased plasma alanine transaminase (ALT) in a recent genome-wide association study in the UK Biobank (UKB). The aims of the present study were to test the association of rs188273166 with ALT in an independent cohort, and to begin to assess the clinical, hepatic, and biochemical phenotypes associated with the variant.
methodsWe included n = 334,886 white participants from UKB, including 14,462 with hepatic magnetic resonance imaging (MRI), and n = 113,612 individuals from the Copenhagen City Heart Study and the Copenhagen General Population Study combined.
resultsGenotyping SLC30A10 p.Thr95Ile identified 816 heterozygotes in the UKB and 111 heterozygotes in the Copenhagen cohort. Compared to noncarriers, heterozygotes had 4 and 5 U/L higher levels of ALT in the UKB and Copenhagen cohort, respectively, and 3 U/L higher plasma aspartate transaminase and gamma-glutamyl transferase in the UKB. Heterozygotes also had higher corrected T1 on liver MRI, a marker of hepatic inflammation (p = 4 × 10
conclusionsSLC30A10 p.Thr95Ile was associated with elevated liver enzymes in two large general population cohorts, and with MRI-quantified hepatic inflammation. A rare genetic variant (p.Thr95Ile) in the manganese transporter SLC30A10 is associated with elevated plasma alanine transaminase (ALT) and higher corrected T1 on liver MRI, markers of liver inflammation. These data support that the variant may increase the risk of liver disease.
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