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Idiopathic pulmonary fibrosis: a paradigm of late-onset, single-gene human disease?
  1. Stephen J Chapman1 and
  2. Matt P Wise2
  1. 1Oxford University Hospitals and Oxford Biomedical Research Centre, Oxford, UK
  2. 2University Hospital of Wales, Cardiff, UK
  1. Correspondence to Dr Stephen J Chapman; schapman{at}

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Idiopathic pulmonary fibrosis (IPF) remains as one of the most devastating respiratory diseases. Incompletely understood and difficult to characterise clinically, there are only limited treatments of proven benefit available and the prognosis is typically poor. Early studies were hampered by a lack of clear classification and diagnostic precision among interstitial lung diseases, and until recently the pathogenesis of IPF has only been poorly understood. However, the last few years have seen major advances in our understanding of the molecular basis of this disease, and in particular a series of landmark studies have begun to uncover the genetic basis of IPF.

Familial forms of IPF are well recognised, although apparently account for only a minority (approximately 10%) of adult cases.1 A number of genes have been implicated in familial IPF through linkage analysis, including genes involved in regulation of telomere length (eg, TERT and TERC) and those encoding surfactant proteins (eg, SFTPA2 and SFTPC) and mucin 5B (MUC5B).1–3 Recently, sporadic (non-familial) IPF has been subject to extensive genome-wide analysis in an attempt to identify underlying genetic susceptibility variants. Genome-wide association studies (GWAS) comprise the genotyping of hundreds of thousands of common genetic variants (termed polymorphisms) spread at intervals across the genome, and the frequency of these variants are typically compared between disease cases and healthy controls. The attraction of such studies is that they are not based on existing assumptions about disease pathogenesis—which are usually incomplete and may be misleading—and hence have the potential to identify associations with previously unsuspected genes and pathways. The cost of this unbiased approach is that …

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