Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

Abstract

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation. Given that multiple systems other than the lung can be impaired in COPD patients, the traditional FEV₁/FVC ratio shows many limitations in COPD diagnosis and assessment. Certain heterogeneities are found in terms of clinical manifestations, physiology, imaging findings, and inflammatory reactions in COPD patients; thus, phenotyping can provide effective information for the prognosis and treatment. However, phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD, and the role of phenotypes in COPD prevention and early diagnosis remains unclear. This shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain genes. This review briefly describes the heterogeneity of COPD, with focus on recent advances in the correlations between genotypes and phenotypes. The potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated.

Keywords

chronic obstructive pulmonary disease / heterogeneity / phenotype / genotype / prediction

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Acknowledgements

This work was supported by the National High Technology Research and Development Program (Grant No.2012AA02A511) and the National Key Technology Research and Development Program (Grant No. 2012BAI05B02).

Compliance with ethics guidelines

Xu Chen, Xiaomao Xu, and Fei Xiao hereby declare that no potential conflict of interest exist with any company/ organization whose products or services may have been discussed in this article. This manuscript is a review article and does not involve a research protocol that requires the approval of a relevant institutional review board or ethics committee.

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