Heterozygosity for the alpha1-antitrypsin Z allele confers high genetic risk of cholangiocarcinoma
V Zimmer, F Mihalache, A Höblinger, F Grünhage, M Krawczyk, B Diaconu, BC Gärtner, T Sauerbruch, M Acalovschi, F Lammert · Zeitschrift für Gastroenterologie · 2010 · Heft 08
Bibliografische Angaben
Zusammenfassung
Background & Aim: The classic form of alpha1-antitrypsin (α1AT) deficiency is caused by homozygosity for α1ATZ alleles, representing a well-recognized risk factor for primary liver cancer (Rudnick DA, Hepatology 2005). However, previous studies pathologically evaluating for α1ATZ deposition have implicated heterozygosity for the Z allele in cholangio-carcinogenesis (Zhou H, Cancer 2000). Here, we tested the common mutant α1AT alleles Z and S as well as the promoter variant rs8004738 as a potential genetic modifier of α1AT-deficient liver disease (Chappell S, Hepatology 2008) for association with sporadic cholang…
