APOC3 polymorphisms and non-alcoholic fatty liver disease: Resolving some doubts and raising others.

摘要

Non-alcoholic fatty liver disease (NAFLD) is the histological expression of different assaults on the liver, including lipid, glucose abnormalities, and obesity. The injury is indistinguishable from that caused by alcohol. Susceptibility and natural history of NAFLD seem to be modulated by gene-environment interactions. However, our current knowledge of the genetic traits involved in NAFLD is limited. In the current issue of the journal of Hepatology, Valenti et al. [1], report a well-powered study on a large cohort of European patients with biopsy-proven NAFLD that showed lack of association between apolipoprotein C3 (APOC3) promoter SNPs (T-455C and C-482T) and the severity of liver damage, even after controlling for PNPLA3 mutation. Apolipoprotein C3 (ApoC3) is a 9 kDa protein inhibitor of lipoprotein lipase, which modulates the binding of chylomicron remnants and very-low-density lipoproteins (VLDL) to low-density-lipo-proteins (LDL) receptors. Lipoprotein lipase hydrolyses triacylgly-cerols in chylomicrons, VLDL, LDL, and diacylglycerols.