肝臟系統 (Hepatic System)

Non-alcoholic fatty liver disease (NAFLD) has become an emerging epidemic globally. We have conducted serial genetic studies aiming to elucidate the underlying pathogenic mechanisms. We demonstrated that mt12361G carriers have a greater risk for moderate and severe NAFLD. These results provided some insights regarding the genetic predisposition to NAFLD in the general population. (Transl Res 2012;159:58-9.)

The adiponutrin/patatin-like phospholipase-3 (PNPLA3) I148M polymorphism has recently been found to contribute to differences in hepatic lipid content. We therefore conducted a case-control study aiming to clarify the relationship between NAFLD and the PNPLA3 genotype in a normoglycaemic population. We found significant differences in the genotype and the dominant model of the PNPLA3 I148M polymorphism between the NAFLD groups and the controls. Furthermore, there was a dose effect of the PNPLA3 I148M genotype, in that CG heterozygotes had a risk of NAFLD between CC and GG homozygotes. Our results shed a light on the genetic predisposition of development of NAFLD (Liver Int 2011;31:1326-31.)