Heterozygosity of the Alpha 1‐Antitrypsin Pi*Z Allele and Risk of Liver Disease
Aaron Hakim, Matthew Moll, Dandi Qiao, Jiangyuan Liu, Jessica A. Lasky‐Su, Edwin K. Silverman, Silvia Vilarinho, Z. Gordon Jiang, Brian D. Hobbs, Michael H. Cho – 2 April 2021 – The serpin family A member 1 (SERPINA1) Z allele is present in approximately one in 25 individuals of European ancestry. Z allele homozygosity (Pi*ZZ) is the most common cause of alpha 1‐antitrypsin deficiency and is a proven risk factor for cirrhosis. We examined whether heterozygous Z allele (Pi*Z) carriers in United Kingdom (UK) Biobank, a population‐based cohort, are at increased risk of liver disease.