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基因多态性与慢性阻塞性肺疾病。

Gene polymorphisms and chronic obstructive pulmonary disease.

机构信息

Department of Respiratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China; Shanghai Respiratory Research Institute, Shanghai, China.

出版信息

J Cell Mol Med. 2014 Jan;18(1):15-26. doi: 10.1111/jcmm.12159. Epub 2013 Nov 21.

Abstract

The genetic component was suggested to contribute to the development of chronic obstructive pulmonary disease (COPD), a major and growing public health burden. The present review aims to characterize the evidence that gene polymorphisms contribute to the aetiology of COPD and related traits, and explore the potential relationship between certain gene polymorphisms and COPD susceptibility, severity, lung function, phenotypes, or drug effects, even though limited results from related studies lacked consistency. Most of these studies were association studies, rather than confirmatory studies. More large-sized and strictly controlled studies are needed to prove the relationship between gene polymorphisms and the reviewed traits. More importantly, prospective confirmatory studies beyond initial association studies will be necessary to evaluate true relationships between gene polymorphisms and COPD and help individualized treatment for patients with COPD.

摘要

遗传因素被认为是导致慢性阻塞性肺疾病(COPD)的一个重要且日益严重的公共卫生负担的原因。本综述旨在描述基因多态性对 COPD 发病机制和相关特征的影响,并探讨某些基因多态性与 COPD 易感性、严重程度、肺功能、表型或药物效应之间的潜在关系,尽管相关研究的有限结果缺乏一致性。这些研究大多是相关性研究,而不是验证性研究。需要更多大型和严格控制的研究来证明基因多态性与所研究特征之间的关系。更重要的是,需要进行初始相关性研究之外的前瞻性验证性研究,以评估基因多态性与 COPD 之间的真实关系,并帮助 COPD 患者进行个体化治疗。

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