PNPLA3 p.I148M, rs738409
Beim Vorliegen des p.I148M Polymorphismus (c.444C>G) im Adiponutrin/ Patatin-like phospholipase domain containing 3 Gen besteht eine erhöhte Suszeptibilität für die Entwicklung einer NASH (Odds Ratio 3), einer ASH, einer Leberfibrose/-zirrhose und für ein HCC bei NASH und ASH.
Literatur
1. Romeo et al.: Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008; 40: 1461
2. Stickel et al.: Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology. 2011; 53: 86
3. Krawczyk et al., Variant adiponutrin (PNPLA3) represent a common fibrosis risk gene: non-invasive elastography-based study in chronic liver disease. J. Hepatol. 2011; 55: 299.
4. Nischalke et al.: The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis. PLoS One. 2011; 6: e27087
5. Liu et al., Carriage of the PNPLA3 rs738409 C >G polymorphism confers an increased risk of non-alcoholic fatty liver disease associated hepatocellular carcinoma. J. Hepatol. 2014; 61:75
6. Übersicht bei Krawczyk et al.: PNPLA3-associated steatohepatitis: toward a gene-based classification of fatty liver disease. Sem Liver Dis 2013; 33: 36