The genetic variant I148 M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans
M Kovarova, I Königsrainer, A Königsrainer, F Machicao, HU Häring, E Schleicher, A Peter · Diabetologie und Stoffwechsel · 2016 · Heft 04
Bibliografische Angaben
Zusammenfassung
Context: Previous studies revealed that the common sequence variant I148 M in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with liver fat content and liver diseases, but not with insulin resistance. Recent data suggest that the PNPLA3 I148 M variant has reduced retinyl-palmitate lipase activity in hepatic stellate cells. Objective: We hypothesized that the PNPLA3 I148 M variant is associated with elevated retinyl-palmitate storage in human liver as a potential link to the clinical pathology. Design/Setting and Participants: Using HPLC, we quantified the retinoid metabolites in li…
