Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi*Z Variant of AAT (Pi*MZ vs Pi*ZZ genotype) and Non-carriers

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 Caucasians have the Pi*MZ genotype; we compared features of adults with and without Pi*MZ genotype among persons without pre-existing liver disease.

Source: Gastroenterology - May 2, 2020 Category: Gastroenterology Authors: Carolin V. Schneider, Karim Hamesch, Annika Gross, Mattias Mandorfer, Linda S. Moeller, Vitor Pereira, Monica Pons, Pawel Kuca, Matthias C. Reichert, Federica Benini, Barbara Burbaum, Jessica Voss, Marla Gutberlet, Vivien Woditsch, Cecilia Lindhauer, Mali Source Type: research