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Heterozygosity for the Alpha‐1‐Antitrypsin Z Allele in Cirrhosis Is Associated With More Advanced Disease
Author(s) -
Prince David Stephen,
Liu Ken,
McCaughan Geoffrey William,
Kench James,
Strasser Simone Irene
Publication year - 2019
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.25487
Subject(s) - medicine , liver transplantation , cirrhosis , gastroenterology , alpha 1 antitrypsin deficiency , loss of heterozygosity , alcoholic liver disease , liver disease , chronic liver disease , transplantation , allele , compound heterozygosity , hepatology , pathology , biology , genetics , gene
Alpha-1-antitrypsin deficiency (A1ATD) is an uncommon autosomal recessive condition which can result in cirrhosis in patients with risk alleles [1]. Alleles are co-dominantly expressed and the clinical significance of heterozygosity remains controversial [1]. Recently, Schaefer et al. [2] showed A1AT MZ heterozygosity is associated with a more advanced form of chronic liver disease compared with MM wildtype. This article is protected by copyright. All rights reserved.