Genetic Factors in Familial Pulmonary Fibrosis  Genetic Factors

Genetic factors are suspected to play a role in familial pulmonary fibrosis (FPF), and a few genes have been identified.  The genes that have been identified are:

  • TERT and TERC (telomerase genes)
  • SP-C (surfactant protein C)
  • SP-A1 (surfactant protein A1)

Surfactant Protein C and the telomerase genes (TERT & TERC) account for approximately 10% of families with FPF and less than 1% of sporadic IPF cases.  It is believed that there are more genes that are associated with FPF that have yet to be identified. 

Research studies are currently underway investigating these genes and additional genetic factors that may cause FPF. 


Other Findings:

  • In a Mexican cohort, mutations in the genes encoding surfactant protein A1 and surfactant protein B have been shown to be associated with IPF in non-smoking and smoking populations, respectively.

  • ELMOD2 was identified as a candidate gene for FPF in a genomic screen of six multiplex families from southeastern Finland.

  • Genetic changes in structures critically involved in the immune system have been reported to be associated with the development of IPF.

Gene discovery for FPF/IPF remains challenging and complex, as the findings above indicate that not only one gene may be responsible for FPF, but multiple genes may play a role, as well as environmental factors.


Genetic Testing

Genetic testing is available on a clinical basis for some of the genes associated with FPF. Genetic counseling is recommended before pursuing genetic testing since not all individuals are good candidates and testing can be costly. Not all of the genes associated with FPF are known. The predictive value of genetic testing is currently unknown.

Learn more about counseling for genetic testing options.