2013年 第7卷 第4期
《医学前沿（英文）》 >> 2013年 第7卷 第4期 doi: 10.1007/s11684-013-0295-x
Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype
1. Key Laboratory of Geriatrics, Beijing Institute of Geriatrics;
2. Department of Respiratory Medicine, Beijing Hospital, Ministry of Health, Beijing 100730, China
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摘要
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.
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