Combined effects of the prosteatotic TM6SF2 and PNPLA3 variants on severity of NALFD: multicentre biopsy-based study in German patients
M Krawczyk, M Rau, J Schattenberg, H Bantel, A Pathil, M Demir, J Kluwe, T Böttler, F Lammert, A Geier · Zeitschrift für Gastroenterologie · 2015 · Heft 12
Bibliografische Angaben
Zusammenfassung
Introduction: The PNPLA3 (adiponutrin) mutation p.I148 M represents the common genetic risk factor for (non-)alcoholic fatty liver disease (NAFLD) and progressive liver fibrosis. Lately a second prosteatotic variant, TM6SF2 p.E167K, has been detected (Nat Genet 2014). So far it remains unclear if this mutation, alike the PNPLA3 p.I148 M variant, increases the risk of liver fibrosis. In the current project we analyse the combined effects of these variants on severity of NAFLD in a cohort of patients recruited at eight German tertiary referral centres. Patients and Methods: After exclusion of acute or chronic live…
