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Ann Am Thorac Soc. 2016 Aug;13 Suppl 4:S341-5. doi: 10.1513/AnnalsATS.201507-437KV.

Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions.

Author information

1
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.

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.

KEYWORDS:

alpha-1 antitrypsin deficiency; association analysis; chronic obstructive pulmonary disease; genetics; heterozygote risk

PMID:
27564671
PMCID:
PMC5059493
DOI:
10.1513/AnnalsATS.201507-437KV
[Indexed for MEDLINE]
Free PMC Article

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