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Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?
  1. Harriet Corvol1,2,3,
  2. Craig A Hodges4,5,
  3. Mitchell L Drumm4,5,
  4. Loïc Guillot1,2
  1. 1INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France
  2. 2Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France
  3. 3Pneumologie pédiatrique, APHP, Hôpital Trousseau, Paris, France
  4. 4Department of Pediatrics, Case Western Reserve University, Cleveland, Ohio, USA
  5. 5Department of Genetics and Genome Sciences, Case Western University, Cleveland, Ohio, USA
  1. Correspondence to Dr L Guillot, Inserm UMR_S 938, CDR Saint Antoine, Inserm, Bât. Kourilsky 2ème Étage, 34 Rue Crozatier, 75012 Paris, France; loic.guillot{at}


Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung function in the general population as well as in several common chronic lung diseases (CLD) such as chronic obstructive pulmonary disease (COPD), asthma, as well as in idiopathic interstitial pneumonias (IIP). The gene was cloned in 2004, yet the encoded protein has not been characterised and its function is unknown. The redundancy of its genetic contribution in CLD suggests a major function of this gene both in lung physiology and CLD. This review provides a brief summary of the current knowledge of FAM13A, and demonstrates the necessity to resolve its biological function besides its well accepted genetic contribution. Further interpretations of FAM13A variants may help in the understanding of CLD mechanisms and reveal opportunity for intervention.

  • Respiratory Medicine
  • Genetics

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