A rare genetic variant in the manganese transporter SLC30A10 and elevated liver enzymes in the general population

Background and Aims : SLC30A0 encodes a manganese transporter which effluxes manganese from hepatocytes to the bile. Individuals homozygous for loss-of-function variants in SLC30A10 accumulate manganese in the liver and have severe phenotypes including liver cirrhosis. A genetic variant in SLC30A10 (rs188273166, p.Thr95Ile) associated with increased plasma alanine transaminase (ALT) in a recent GWAS in the UK Biobank (UKB). The aims of the present study were to validate the association of rs188273166 with ALT in an independent cohort, and to test clinical, hepatic and biochemical phenotypes associated with the variant.