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Semin Respir Crit Care Med 2016; 37(03): 321-330
DOI: 10.1055/s-0036-1580694
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetics and Idiopathic Interstitial Pneumonias

Sarah G. Chu
1   Division of Pulmonary and Critical Care, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
,
Souheil El-Chemaly
1   Division of Pulmonary and Critical Care, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
,
Ivan O. Rosas
1   Division of Pulmonary and Critical Care, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
› Author Affiliations
Further Information

Publication History

Publication Date:
27 May 2016 (online)

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Abstract

Significant progress has been made in elucidating the genetics of parenchymal lung diseases, particularly idiopathic interstitial pneumonias (IIPs). IIPs are a heterogeneous group of diffuse interstitial lung diseases of uncertain etiology, diagnosed only after known causes of interstitial lung disease have been excluded. Idiopathic pulmonary fibrosis is the most common IIP. Through candidate gene approaches and genome wide association studies, much light has been shed on the genetic origins of IIPs, enhancing our understanding of risk factors and pathogenesis. However, significant work remains to be accomplished in identifying novel genetic variants and characterizing the function of validated candidate genes in lung pathobiology, their interplay with environmental factors, and ultimately translating these discoveries to patient care.

Keywords

interstitial pneumonia - IPF - surfactant protein - telomere - MUC5B
 

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