FAM13A as a Contributor in Chronic Lung Diseases
FAM13A as a Contributor in Chronic Lung Diseases
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.
Lung diseases are a major cause of morbidity and mortality. Five global respiratory conditions, chronic obstructive pulmonary disease (COPD), asthma, lung cancer, acute respiratory infections and tuberculosis (TB), have been highlighted to largely contribute to the overall respiratory disease burden. Besides evidence of external causes (tobacco, household and outdoor pollution, and occupational exposures to lung toxins), these complex diseases are known to have a genetic contribution. Lung function is a heritable trait reflecting the physiological state of the lungs, and is mainly evaluated by measuring the forced expiratory volume in 1 s (FEV1) and/or the ratio (airway obstruction) FEV1/FVC (forced vital capacity) by spirometry. Interestingly, several genetic studies have identified that FAM13A is associated with lung function in the general population, as well as in three out of these five major lung diseases responsible of the overall burden of lung diseases, suggesting a major contributor of the lung physiology.
Abstract and Introduction
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.
Introduction
Lung diseases are a major cause of morbidity and mortality. Five global respiratory conditions, chronic obstructive pulmonary disease (COPD), asthma, lung cancer, acute respiratory infections and tuberculosis (TB), have been highlighted to largely contribute to the overall respiratory disease burden. Besides evidence of external causes (tobacco, household and outdoor pollution, and occupational exposures to lung toxins), these complex diseases are known to have a genetic contribution. Lung function is a heritable trait reflecting the physiological state of the lungs, and is mainly evaluated by measuring the forced expiratory volume in 1 s (FEV1) and/or the ratio (airway obstruction) FEV1/FVC (forced vital capacity) by spirometry. Interestingly, several genetic studies have identified that FAM13A is associated with lung function in the general population, as well as in three out of these five major lung diseases responsible of the overall burden of lung diseases, suggesting a major contributor of the lung physiology.
