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[慢性阻塞性肺疾病与遗传学]

[Chronic obstructive pulmonary disease and genetics].

作者信息

Ingebrigtsen Truls, Thomsen Simon Francis, Vestbo Jørgen, Backer Vibeke

机构信息

Bispebjerg Hospital, Lungemedicinsk Forskningsenhed, Lungemedicinsk afdeling L.

出版信息

Ugeskr Laeger. 2008 Sep 15;170(38):2971-3.

Abstract

Chronic obstructive pulmonary disease (COPD) is characterised by airflow limitation and is associated with an inflammatory response of the lungs primarily caused by cigarette smoking. Cigarette smoking is by far the most important environmental risk factor for COPD, but less than half of all heavy smokers develop COPD. This indicates a genetic contribution to the individual disease susceptibility. Although many genes have been examined, the puzzle of COPD genetics seems still largely unsolved. It is therefore important to measure phenotypes and to perform genome-wide scans of COPD patients in order to unravel the contribution of the COPD susceptibility genes.

摘要

慢性阻塞性肺疾病(COPD)的特征是气流受限,与主要由吸烟引起的肺部炎症反应相关。吸烟是迄今为止COPD最重要的环境风险因素,但所有重度吸烟者中不到一半会患上COPD。这表明个体对疾病的易感性存在遗传因素。尽管已经对许多基因进行了研究,但COPD遗传学之谜似乎仍未得到很大程度的解决。因此,测量表型并对COPD患者进行全基因组扫描以阐明COPD易感基因的作用非常重要。

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