title: Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions.
abstract: The potential for increased chronic obstructive pulmonary disease (COPD) risk among PI MZ subjects was initially recognized decades ago. However, despite many studies of this topic, it has remained controversial whether such increased risk exists. Several recent studies in large populations strongly support increased risk for COPD among PI MZ subjects. This increased PI MZ risk will need to be understood in the context of other identified COPD genetic determinants and investigations of COPD phenotypic heterogeneity.
authors: Channing Division of Network Medicine, and Pulmonary and Critical Care Medicine Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Edwin K
authors: EK
authors: Silverman
mesh_terms: D000483:Alleles; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D010641:Phenotype; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000235:genetics*
chemical_list: C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin
keywords: alpha-1 antitrypsin deficiency; association analysis; chronic obstructive pulmonary disease; genetics; heterozygote risk