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Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine
  1. Paolo Spagnolo1,
  2. Vincent Cottin2,3
  1. 1Section of Respiratory Diseases, Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy
  2. 2Department of Respiratory Diseases, Hospices Civils de Lyon, Louis Pradel Hospital, National Reference Center for Rare Pulmonary Diseases, Lyon, France
  3. 3Université Lyon I, INRA, UMR754, Lyon, France
  1. Correspondence to Professor Paolo Spagnolo, Section of Respiratory Diseases; Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, via Giustiniani 3, Padova 35128, Italy; paolo.spagnolo{at}


Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and ultimately fatal disorder for which there is no cure. While the disease is by definition idiopathic, accumulating evidence, including familial aggregation of cases and the occurrence of pulmonary fibrosis in the context of a number of rare genetic disorders, indicates that genetic factors contribute significantly to the pathogenesis of IPF. Several disease-associated genetic variants, both rare and common, have been identified in familial and sporadic IPF. While the full clinical implications of these genetic associations remain to be elucidated, observational studies suggest that genotype influences the development of the disease and its outcome. Available data indicate that genetics has the potential to identify individuals at risk of IPF, classify patients more precisely, clarify the key pathways involved in disease pathogenesis and eventually develop more effective targeted therapies. Considerable research is required before a comprehensive disease fingerprint of IPF can be delivered. Nevertheless, the application of rapidly evolving molecular biology and genomic technologies combined with appropriate bioinformatic methodology offers an unprecedented and realistic opportunity to achieve this goal.

  • Diffuse parenchymal lung disease
  • Genetic screening/counselling
  • Genetics
  • Clinical genetics

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  • Contributors PS conceived of the study and drafted the manuscript. VC drafted the manuscript and revised it for important intellectual content. Both authors read and approved the final manuscript.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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