Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease

Bayoumi, Ismail Jalil, Mayada Metwally, Leon A. Adams, Rocio Aller, Carmelo García-Monzón, María Teresa Arias-Loste, Luca Miele, Salvatore Petta, Antonio Craxì, Rocio Gallego-Durán, Janett Fischer, Thomas Berg, Liang Qiao, Christopher Liddle, Elisabetta Bugianesi, Manuel Romero-Gomez, Jacob George, Mohammed Eslam

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article numbere0243590
JournalPLoS One
Volume15
Issue number12 December
DOIs
Publication statusPublished - Dec 2020

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