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慢性阻塞性肺疾病中的基因多态性

Genetic polymorphisms in chronic obstructive pulmonary disease.

作者信息

Ugenskiene Rasa, Sanak Marek, Sakalauskas Raimundas, Szczeklik Andrew

机构信息

Department of Pulmonology and Immunology, Kaunas University of Medicine, Eiveniu 2, 50009 Kaunas, Lithuania.

出版信息

Medicina (Kaunas). 2005;41(1):17-22.

Abstract

Etiology of chronic obstructive pulmonary disease remains unknown but, despite some inconsistencies in reports on inflammatory cells, mediators and proteases involved in the pathogenesis of chronic obstructive pulmonary disease, genetic risk factors were proposed as a cause of susceptibility to the disease. Results of many studies suggested polygenic inheritance, with the genetic component consisting of several genes of a small effect each, rather than of single major gene. We are going to review the clinical importance of alpha-1 antitrypsin, glutathione S-transferase, microsomal epoxide hydrolase, matrix metalloproteinase, tumor necrosis factor-a, alpha-1 antichymotrypsin, alpha 2-macroglobulin, cytochrome P4501A1, heme oxygenase-1 genes polymorphisms associated with susceptibility and progression of the chronic obstructive pulmonary disease.

摘要

慢性阻塞性肺疾病的病因尚不清楚,尽管关于参与慢性阻塞性肺疾病发病机制的炎症细胞、介质和蛋白酶的报道存在一些不一致之处,但遗传风险因素被认为是该疾病易感性的一个原因。许多研究结果表明其为多基因遗传,遗传成分由几个效应较小的基因组成,而非单个主要基因。我们将综述α-1抗胰蛋白酶、谷胱甘肽S-转移酶、微粒体环氧化物水解酶、基质金属蛋白酶、肿瘤坏死因子-α、α-1抗糜蛋白酶、α2-巨球蛋白、细胞色素P4501A1、血红素加氧酶-1基因多态性与慢性阻塞性肺疾病易感性及病情进展的临床重要性。

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