Article
Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
Orphanet journal of rare diseases - 8 Apr 2026
Hersh Craig P, Teckman Jeffrey H, Strnad Pavel, Hakim Aaron, Carroll Tomás P, Hall Ian P, Ghosh Auyon J, Barjaktarevic Igor, McElvaney Noel G, Kaserman Joseph E, Lomas David A, Strange Charlie, Drummond M Bradley, Rennard Stephen, Hanna Kathi E, Clark Virginia C, Goldklang Monica P, Iverson Peg, Wilson Andrew A
Abstract excerpt
BACKGROUND: Individuals heterozygous for alpha-1 antitrypsin deficiency (AATD) have one copy of the normal "M" allele and one copy of an abnormal allele ("Z", "S", or another variant) in the SERPINA1 gene. Historically, evidence has been lacking to support the concept that heterozygotes are at increased risk for liver and/or lung complications compared to individuals homozygous for the M allele. However, growing...
Topics
- Animals
- Humans
- Alleles
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency
- Heterozygote
- Liver Diseases