title: Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?
abstract: 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.
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France Pneumologie pédiatrique, APHP, Hôpital Trousseau, Paris, France.
authors.forename: Harriet
authors.initials: H
authors.lastname: Corvol
authors.affiliation: Department of Pediatrics, Case Western Reserve University, Cleveland, Ohio, USA Department of Genetics and Genome Sciences, Case Western University, Cleveland, Ohio, USA.
authors.forename: Craig A
authors.initials: CA
authors.lastname: Hodges
authors.affiliation: Department of Pediatrics, Case Western Reserve University, Cleveland, Ohio, USA Department of Genetics and Genome Sciences, Case Western University, Cleveland, Ohio, USA.
authors.forename: Mitchell L
authors.initials: ML
authors.lastname: Drumm
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France.
authors.forename: Loïc
authors.initials: L
authors.lastname: Guillot
mesh_terms: D002908:Chronic Disease; D020690:GTPase-Activating Proteins / Q000235:genetics / Q000502:physiology; D055106:Genome-Wide Association Study; D006801:Humans; D008171:Lung Diseases / Q000235:genetics / Q000503:physiopathology; D029424:Pulmonary Disease, Chronic Obstructive
chemical_list: C570078:FAM13A protein, human; D020690:GTPase-Activating Proteins
keywords: Genetics; Respiratory Medicine