Principal Investigator: Dr Pavel Strnad
Department: Uniklinik RWTH AachenTags: 47527, alpha1-Antitrypsin, Liver, liver fibrosis, lung
Severe Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death and is caused mainly by the homozygous PiZ mutation (termed as Pi*ZZ). While lung and disease constitute the leading causes of AATD-related mortality, multiple other disorders including panniculitis and vasculitis have been described to associate with AATD.
While the Pi*ZZ genotype is relatively rare,the heterozygous carriage of PiZ allele (termed Pi*MZ) is seen in ~2% of European population, however the health risks associated with this genotype remain unknown. Recently, we demonstrated that PiZ carriage predisposes alcohol misusers as well as individuals with non-alcoholic fatty liver disease to development of liver cirrhosis. As the next step, we want to characterize the health risks associated with the Pi*MZ in the general population. For this purpose, we would like to use the UK biobank and compare a variety of metabolic and organ-related parameters between PiZ carriers and non-carriers. The parameters, that will display significant differences between the groups, will be subjected to multivariate analysis to account for confounders.