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The Genetics of Pulmonary Fibrosis

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Book cover Idiopathic Pulmonary Fibrosis

Part of the book series: Respiratory Medicine ((RM,volume 9))

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Abstract

The past two decades have been marked by a dramatic increase in the knowledge of the genetics of human disease. The field of interstitial lung disease (ILD) genetics has expanded as well. Much of the early understanding of ILD genetics came from rare Mendelian disorders that were associated with premature onset of disease. Other information came from single-gene multisystem disorders in which lung disease was variably present. More recently, the major advances in ILD genetics have come from focused analysis of familial pulmonary fibrosis. These rare families with multiple members affected by ILD have provided critical new insight into the possible mechanism of sporadic as well as inherited disease. Both linkage studies and large-scale, genome-wide association studies (GWAS) have identified genetic loci implicated in susceptibility to idiopathic pulmonary fibrosis (IPF). The next two decades will surely produce not only new risk alleles but also a more extensive understanding of genetics based on patient molecular phenotyping. In addition, epigenetics remains an area of potential discovery.

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Author information

Authors and Affiliations

  1. Department of Medicine, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, 1830 E. Monument Street, Suite 500, Baltimore, MD, 21205, USA

    Sonye K. Danoff M.D., Ph.D.

  2. Department of Medicine, Johns Hopkins University, Baltimore, MD, USA

    Cheilonda Johnson M.D., M.H.S.

Authors
  1. Sonye K. Danoff M.D., Ph.D.
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  2. Cheilonda Johnson M.D., M.H.S.
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Correspondence to Sonye K. Danoff M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Dept. Internal Medicine, Sect. Allergy Pulmonary & Critical Care Med., University of Wisconsin School of Medicine & Public Health, Madison, Wisconsin, USA

    Keith C. Meyer

  2. Advanced Lung Disease and Lung Transplant Program, Inova Fairfax Hospital, Falls Church, Virginia, USA

    Steven D. Nathan

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Danoff, S.K., Johnson, C. (2014). The Genetics of Pulmonary Fibrosis. In: Meyer, K., Nathan, S. (eds) Idiopathic Pulmonary Fibrosis. Respiratory Medicine, vol 9. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-682-5_9

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  • DOI: https://doi.org/10.1007/978-1-62703-682-5_9

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  • Publisher Name: Humana Press, Totowa, NJ

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