Linkage Study in Familial Pulmonary Fibrosis
Condition: Pulmonary Fibrosis; Lung Diseases; Lung Diseases, Interstitial
MeSH terms: Lung Diseases; Pulmonary Fibrosis; Lung Diseases, Interstitial; Fibrosis
Study type: Observational

Summary: 
      To map the gene (or genes) for familial pulmonary fibrosis.
    

Detailed description: 
      BACKGROUND:

      Familial pulmonary fibrosis (FPF) is a rare, progressive, life-threatening disease. Although
      far from definitive, several lines of evidence suggest that it could involve genetic
      susceptibility and that its expression may be modified gene-environment interactions
      involving exposure to fibrogenic dusts. If the specific gene loci involved can be identified
      and their functions characterized, these studies could lead to a better understanding of the
      etiology of the disease and effective intervention strategies among families at increased
      risk. It is conceivable that the genetically influenced pathologic mechanisms involved may be
      shared with other, more common forms of pulmonary fibrosis such as idiopathic pulmonary
      fibrosis (IPF) or asbestosis. Thus, these studies could lead to the early identification of
      individuals susceptible to reversible interstitial lung disease and to the development of
      novel therapeutic approaches.

      Familial pulmonary fibrosis is indistinguishable pathologically from idiopathic pulmonary
      fibrosis and appears to be inherited as an autosomal dominant trait with variable penetrance;
      pulmonary fibrosis is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak
      syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and
      familial hypocalciuric hypercalcemia; pulmonary fibrosis is frequently observed in autoimmune
      disease, including rheumatoid arthritis and systemic sclerosis; variable susceptibility is
      evident among workers who are reported to be exposed occupationally to similar concentrations
      of fibrogenic dusts; and inbred strains of mice differ in their susceptibility to fibrogenic
      dust.

      DESIGN NARRATIVE:

      The study uses standard genetic methodology (linkage analysis) to investigate the
      distribution of polymorphisms for anonymous genetic markers in families with familial
      pulmonary fibrosis. The comprehensive genome-wide study, using standard genetic markers, will
      allow identification of loci which subsequently may prove to contain novel genes that play a
      role in the pathogenesis of pulmonary fibrosis. Once genetic loci are defined in familial
      pulmonary fibrosis, candidate genes can be identified on the basis of both positional and
      functional criteria. Moreover, this approach will provide basic information on high priority
      loci that will be applicable to the rapidly evolving dense human transcript map for pulmonary
      fibrosis in families with two or more cases of pulmonary fibrosis.

      The study completion date listed in this record was obtained from the "End Date" entered in
      the Protocol Registration and Results System (PRS) record.