A polymorphism of the alpha1‐antitrypsin gene represents a risk factor for liver disease
Sally Chappell, Nedim Hadzic, Robert Stockley, Tamar Guetta‐Baranes, Kevin Morgan, Noor Kalsheker – 26 December 2007 – Alpha1‐antitrypsin deficiency (AATD) due to homozygosity of the protease inhibitor (Pi) Z variant predisposes to childhood liver disease and pulmonary emphysema. About 10% of all neonates with AATD develop liver disease, and about 3% overall progress to severe disease. AATD is a principal genetic indication for liver transplantation in children.