Sakamoto Tohru, Hizawa Nobuyuki
Department of Pulmonary Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba.
Nihon Rinsho. 2011 Oct;69(10):1758-62.
Chronic obstructive pulmonary disease (COPD) is a complex disease that results from the interaction of multiple genetic and environmental factors. Different approaches have been used to identify the genetic factors: genome-wide linkage study, gene expression profiling, candidate gene association study, and genome-wide association study. Although many genes responsible for susceptibility to COPD have been reported, most of them have not been replicated in other study populations. Difficulty in replication is attributed to the genetic and phenotypic heterogeneity of the disease as well as the small influence of each gene on the development of the disease. A more precise definition is required for the characterization of different COPD phenotypes such as emphysema and small airway disease. A combination of several approaches using the improved phenotypes will lead to detection of novel susceptibility genes and new therapeutic targets.
慢性阻塞性肺疾病（COPD）是一种由多种遗传和环境因素相互作用导致的复杂疾病。人们采用了不同方法来识别遗传因素：全基因组连锁研究、基因表达谱分析、候选基因关联研究和全基因组关联研究。尽管已经报道了许多与COPD易感性相关的基因，但其中大多数在其他研究人群中尚未得到重复验证。重复验证的困难归因于该疾病的遗传和表型异质性，以及每个基因对疾病发展的影响较小。对于不同的COPD表型（如肺气肿和小气道疾病）的特征描述，需要更精确的定义。使用改良后的表型，结合多种方法将有助于发现新的易感基因和新的治疗靶点。
