Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease.

ABSTRACT: Alpha-1-antitrypsin deficiency (A1ATD) due to homozygosity for the Z allele (ZZ) is an established risk factor for cirrhosis, but the liver disease risk in heterozygous Z allele carriers (MZ) is controversial. The aim of the present study was to determine the prevalence of the MZ genotype among patients with cirrhosis and the associated risk of decompensation and liver transplantation/mortality. An unselected cohort of 561 patients with cirrhosis and 248 deceased liver donors were genotyped for the A1ATD risk alleles Z and S using a validated allelic discrimination assay. Clinical and biochemical parameters were assessed in 488 genotype MM and 52 MZ patients at baseline when cirrhosis was diagnosed and at the last contact, before liver transplantation or death, as study endpoints. MZ preva

SUBMITTER: Schaefer B 

PROVIDER: S-EPMC6032913 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature