Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers

• Autor(a) principal: Schneider, Carolin V.
• Data de Publicação: 2020
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.26/34284

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 Pi∗MZ genotype among persons without preexisting liver disease.