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Insights from human genetic studies of lung and organ fibrosis
Christine Kim Garcia
Christine Kim Garcia
Published January 2, 2018
Citation Information: J Clin Invest. 2018;128(1):36-44. https://doi.org/10.1172/JCI93556.
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Review Series

Insights from human genetic studies of lung and organ fibrosis

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Abstract

Genetic investigations of fibrotic diseases, including those of late onset, often yield unanticipated insights into disease pathogenesis. This Review focuses on pathways underlying lung fibrosis that are generalizable to other organs. Herein, we discuss genetic variants subdivided into those that shorten telomeres, activate the DNA damage response, change resident protein expression or function, or affect organelle activity. Genetic studies provide a window into the downstream cascade of maladaptive responses and pathways that lead to tissue fibrosis. In addition, these studies reveal interactions between genetic variants, environmental factors, and age that influence the phenotypic spectrum of disease. The discovery of forces counterbalancing inherited risk alleles identifies potential therapeutic targets, thus providing hope for future prevention or reversal of fibrosis.

Authors

Christine Kim Garcia

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Figure 1

Genetic variants define an inherited susceptibility to pulmonary fibrosis and to different manifestations of organ fibrosis.

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Genetic variants define an inherited susceptibility to pulmonary fibrosi...
Genes linked to an inherited risk of pulmonary fibrosis can be broadly classified into those that lead to a DNA damage response, those that are expressed in lung epithelium, and those that are expressed in lamellar bodies — or organelles crucial for type II alveolar epithelial cell function. Examples of other manifestations of organ fibrosis using this same broad classification scheme of variants affecting DNA, protein, and organelle function are indicated to the right. Genetic disorders characterized by the involvement of multiple different organs are listed with each panel.
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