University of Birmingham, Birmingham, B15 2TT, UK.
Genome Med. 2009 Nov 30;1(11):112. doi: 10.1186/gm112.
Chronic obstructive pulmonary disease (COPD) is a common problem worldwide, and it is recognized that the term encompasses overlapping sub-phenotypes of disease. The development of a sub-phenotype may be determined in part by an individual's genetics, which in turn may determine response to treatment. A growing understanding of the genetic factors that predispose to COPD and its sub-phenotypes and the pathophysiology of the condition is now leading to the suggestion of individualized therapy based on the patients' clinical phenotype and genotype. Pharmacogenetics is the study of variations in treatment response according to genotype and is perhaps the next direction for genetic research in COPD. Here, we consider how knowledge of the pathophysiology and genetic risk factors for COPD may inform future management strategies for affected individuals.
慢性阻塞性肺疾病(COPD)是一种全球性的常见问题,人们认识到该术语包含疾病的重叠亚表型。亚表型的发展部分可能取决于个体的遗传因素,而遗传因素又可能决定对治疗的反应。目前,人们对导致 COPD 及其亚表型的遗传因素以及疾病病理生理学的认识不断加深,这使得人们开始根据患者的临床表型和基因型提出个体化治疗的建议。药物遗传学是根据基因型研究治疗反应的变化,可能是 COPD 遗传研究的下一个方向。在这里,我们考虑 COPD 的病理生理学和遗传风险因素的知识如何为受影响个体的未来管理策略提供信息。