Article
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers.
Gastroenterology - 1 Aug 2020
Schneider Carolin V, Hamesch Karim, Gross Annika, Mandorfer Mattias, Moeller Linda S, Pereira Vitor, Pons Monica, Kuca Pawel, Reichert Matthias C, Benini Federica, Burbaum Barbara, Voss Jessica, Gutberlet Marla, Woditsch Vivien, Lindhauer Cecilia, Fromme Malin, Kümpers Julia, Bewersdorf Lisa, Schaefer Benedikt, Eslam Mohammed, Bals Robert, Janciauskiene Sabina, Carvão Joana, Neureiter Daniel, Zhou Biaohuan, Wöran Katharina, Bantel Heike, Geier Andreas, Dirrichs Timm, Stickel Felix, Teumer Alexander, Verbeek Jef, Nevens Frederik, Govaere Olivier, Krawczyk Marcin, Roskams Tania, Haybaeck Johannes, Lurje Georg, Chorostowska-Wynimko Joanna, Genesca Joan, Reiberger Thomas, Lammert Frank, Krag Aleksander, George Jacob, Anstee Quentin M, Trauner Michael, Datz Christian, Gaisa Nadine T, Denk Helmut, Trautwein Christian, Aigner Elmar, Strnad Pavel
Abstract excerpt
BACKGROUND & AIMS: Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without...
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