6533b7d1fe1ef96bd125d7a1
RESEARCH PRODUCT
Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease.
Leon A. AdamsAntonio CraxìChristopher LiddleThomas BergAli BayoumiLiang QiaoJanett FischerMayada MetwallyLuca MieleManuel Romero-gómezJacob GeorgeSalvatore PettaMohammed EslamIsmail JalilRocío Gallego-duránCarmelo García-monzónMaría Teresa Arias-losteElisabetta BugianesiRocío Allersubject
Liver CirrhosisMaleSteatosisGene ExpressionDiseasePathology and Laboratory MedicineInbred C57BLGastroenterologyPathogenesisCytopathologyCohort StudiesLiver diseaseMice0302 clinical medicineFibrosisMedicine and Health SciencesLiver injury0303 health sciencesMultidisciplinaryLiver DiseasesQFatty liverRTLL1Single NucleotideMiddle Aged3. Good healthUp-RegulationAdult; Animals; Cohort Studies; Fatty Liver; Female; Genetic Variation; Humans; Liver Cirrhosis; Male; Mice; Mice Inbred C57BL; Middle Aged; Tolloid-Like Metalloproteinases; Up-Regulation; Polymorphism Single NucleotideMedicineLiver Fibrosis030211 gastroenterology & hepatologyFemaleAnatomyResearch ArticleAdultmedicine.medical_specialtyHistologyTolloid-Like MetalloproteinasesSettore MED/12 - GASTROENTEROLOGIAScienceGastroenterology and HepatologyPolymorphism Single Nucleotide03 medical and health sciencesInternal medicinemedicineGeneticsAnimalsHumansPolymorphism030304 developmental biologyNutritionbusiness.industryAdult Animals Cohort Studies Fatty Liver Female Genetic Variation Humans Liver Cirrhosis Male Mice Mice Inbred C57BL Middle Aged Tolloid-Like Metalloproteinases Up-Regulation Polymorphism Single NucleotideBiology and Life SciencesGenetic Variationmedicine.diseaseFibrosisDietFatty LiverMice Inbred C57BLn/aAnatomical PathologySteatosisbusinessDevelopmental Biologydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-12-11 |