Alpha‐1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity
Liguo Wang, George W. Marek, Ryan A. Hlady, Ryan T. Wagner, Xia Zhao, Virginia C. Clark, Alex Xiucheng Fan, Chen Liu, Mark Brantly, Keith D. Robertson – 25 January 2019 – Alpha‐1 antitrypsin deficiency (AATD) liver disease is characterized by marked heterogeneity in presentation and progression, despite a common underlying gene mutation, strongly suggesting the involvement of other genetic and/or epigenetic modifiers. Variation in clinical phenotype has added to the challenge of detection, diagnosis, and testing of new therapies in patients with AATD.