Open AccessGenetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease
Author(s) -
Ali Bayoumi,
Ismail Jalil,
Mostafa Metwally,
Leon Adams,
R. Aller,
Carmelo GarcíaMonzón,
María Teresa Arias-Loste,
Luca Miele,
Salvatore Petta,
Antonio Craxı̀,
Rocío GallegoDurán,
Janett Fischer,
Thomas Berg,
Liang Qiao,
Christopher Liddle,
Elisabetta Bugianesi,
Manuel RomeroGómez,
Jacob George,
Mohammed Eslam
Publication year - 2020
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0243590
Subject(s) - fibrosis , fatty liver , pathogenesis , hepatic fibrosis , medicine , disease , liver disease , pathology , gastroenterology
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.