RT Journal Article
T1 Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease.
A1 Bayoumi, Ali
A1 Jalil, Ismail
A1 Metwally, Mayada
A1 Adams, Leon A
A1 Aller, Rocio
A1 García-Monzón, Carmelo
A1 Arias-Loste, María Teresa
A1 Miele, Luca
A1 Petta, Salvatore
A1 Craxì, Antonio
A1 Gallego-Durán, Rocio
A1 Fischer, Janett
A1 Berg, Thomas
A1 Qiao, Liang
A1 Liddle, Christopher
A1 Bugianesi, Elisabetta
A1 Romero-Gomez, Manuel
A1 George, Jacob
A1 Eslam, Mohammed
AB Metabolic associated fatty liver disease (MAFLD) is the most prevalent liver disease in Western nations, with high heritability. A recent study of Japanese patients with the disease suggested that TLL1 rs17047200 is associated with fibrosis; whether a similar association is observed in Caucasian patients with MAFLD is unknown. We investigated the association of the TLL1 rs17047200 polymorphism with liver fibrosis in a cohort of Caucasian patients with MAFLD (n = 728). We also investigated whether TLL1 expression is altered during liver injury in humans, in murine models of fibrosis, and in in-vitro. While TLL1 expression is upregulated in the liver of humans with MAFLD and in mice, the rs17047200 variant was not associated with fibrosis or any other histological features, or with hepatic TLL1 expression. In conclusion, the TLL1 rs17047200 variant is not a risk variant for fibrosis in Caucasian patients with MAFLD. However, TLL1 could be involved in the pathogenesis of liver fibrosis.
YR 2020
FD 2020-12-11
LK http://hdl.handle.net/10668/16775
UL http://hdl.handle.net/10668/16775
LA en
DS RISalud
RD Apr 15, 2025