RT Generic
T1 TLL1 rs17047200 Increases the Risk of Fibrosis Progression in Caucasian Patients With Chronic Hepatitis C.
A1 John, Miya
A1 Metwally, Mayada
A1 Mangia, Alessandra
A1 Romero-Gomez, Manuel
A1 Berg, Thomas
A1 Sheridan, David
A1 George, Jacob
A1 Eslam, Mohammed
K1 Genome‑Wide Association Study
K1 Hepatocellular Carcinoma
K1 Genetic Susceptibility
K1 Liver Fibrosis
K1 Alternative Splicing
K1 Single Nucleotide Polymorphism
AB We read with interest the Matsuura et al1 genome-wide association study (GWAS) of 456 Japanese patients identifying tolloid like 1 (TLL1) as a novel susceptibility locus for hepatocellular carcinoma (HCC) after clearance of hepatitis C virus (HCV) with interferon-based treatment. Although detailed functional mechanisms were not defined, the authors suggested that the TLL1 rs17047200 single nucleotide polymorphism or other intronic variants in strong LD may influence splicing, resulting in production of a catalytically more active short isoform (TLL1 isoform 2). The paper went on to suggest that the effect of the single nucleotide polymorphism was likely indirect, mediated via an impact on liver fibrosis. As evidence, there was a strong association between hepatic TLL1 messenger RNA expression and fibrosis in human and murine models. However, rs17047200 genotype distribution did not differ according to fibrosis stage.
PB Elsevier Inc
YR 2017
FD 2017-11
LK http://hdl.handle.net/10668/11660
UL http://hdl.handle.net/10668/11660
LA en
NO John M, Metwally M, Mangia A, Romero-Gomez M, Berg T, Sheridan D, et al.  TLL1 rs17047200 Increases the Risk of Fibrosis Progression in Caucasian Patients With Chronic Hepatitis C. Gastroenterology. 2017 Nov;153(5):1448-1449.
DS RISalud
RD Jul 30, 2025