United European gastroenterology journal
Metabolic Dysfunction-Associated Steatotic Disease and Genetic Risk in Germany-An Observational Real-World Cohort Study
Par Krawczyk M, Grünhage F, Schubert L et 17 autres.
Contenu en anglais
Résumé
Background
Metabolic dysfunction-associated steatotic disease (MASLD) affects increasing numbers of patients worldwide. The PNPLA3 p.I148M variant represents a major genetic determinant of MASLD progression. The loss-of-function HSD17B13 polymorphism rs72613567 was reported in turn to be hepatoprotective.
Patients
We analysed blood samples of 507 patients recruited within the Fatty Liver Assessment in Germany (FLAG) study, of whom 476 (255 males, age 56 years) were genotyped. FLAG is a multicenter real-world MASLD cohort covering secondary and tertiary healthcare levels. The PNPLA3 p.I148M and the HSD17B13 rs72613567 polymorphisms were genotyped using allelic discrimination assays. The control cohort comprised 174 individuals.