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

• Autor(es): 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
• Data: 2020
• Identificador Persistente: http://hdl.handle.net/10400.26/34284
• Origem: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório Comum

Descrição

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.