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慢性阻塞性肺疾病的遗传学:简要综述、未来方向及潜在临床应用

Genetics of chronic obstructive pulmonary disease: a succinct review, future avenues and prospective clinical applications.

作者信息

Bossé Yohan

机构信息

Institut universitaire de cardiologie et de pneumologie de Québec, Pavillon Margeritte-d'Youville, Y4190, 2725, Chemin Sainte-Foy, Quebec City, Quebec, G1V 4G5, Canada.

出版信息

Pharmacogenomics. 2009 Apr;10(4):655-67. doi: 10.2217/pgs.09.10.

Abstract

Chronic obstructive pulmonary disease (COPD) is influenced by genetic and environmental factors. A large number of candidate gene-association studies and genome-wide linkage scans have been conducted to elucidate the genetic architecture underlying this disease. The compilation of these studies clearly revealed the complex genetic nature of COPD. Multiple genes acting on specific environmental backgrounds are likely to be the tenet of this multifactorial disorder. Encouragingly, reproducible susceptibility genes, such as SERPINE2, were recently identified. Advances in genomic research offer unprecedented capabilities to interrogate the human genome and are likely to accelerate the discovery of new genes. A comprehensive catalogue of genes implicated in the pathogenesis of COPD has great potential to lead to the development of new therapies and explain interindividual response to treatment.

摘要

慢性阻塞性肺疾病(COPD)受遗传和环境因素影响。为阐明该疾病潜在的遗传结构,已开展了大量候选基因关联研究和全基因组连锁扫描。这些研究的汇总结果清楚地揭示了COPD复杂的遗传本质。在特定环境背景下起作用的多个基因可能是这种多因素疾病的核心。令人鼓舞的是,最近发现了一些可重复的易感基因,如丝氨酸蛋白酶抑制剂E2(SERPINE2)。基因组研究的进展为探究人类基因组提供了前所未有的能力,并可能加速新基因的发现。一份与COPD发病机制相关的基因综合目录极有可能推动新疗法的开发,并解释个体对治疗的反应。

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