高金明 林耀广 肖毅 徐凯峰 许文兵 马毅 100730 中国协和医科大学中国医学科学院北京协和医院呼吸内科 中华结核和呼吸感染 1999 0 22 11


    关键词：哮喘；血管紧张素转换酶；多态性 期刊 zhjhhhxgr 0 论著 fur -->


    

【摘要】 目的 探讨血管紧张素转换酶(ACE)基因插入(Insertion，I)与缺失(deletion，D)多态性与支气管哮喘易感性、肺功能间的关系。方法 采用聚合酶链反应(PCR)确定50例哮喘患者，7个哮喘家系所有个体以及50名正常健康对照者ACE的基因型；乙酰甲胆碱(Mch)激发试验测定气道的反应性；测定哮喘患者肺的通气功能[一秒钟用力呼气容积占预计值百分比(FEV₁ 占预计值%),一秒钟用力呼气容积/用力肺活量(FEV₁ /FVC)]。结果 ACE基因D纯合型在哮喘组及哮喘家系组的频率分别为46%、53%，在对照组为16%，两组比较差异有显著性(P<0.05)，相对危险度为4.98。 携带D型纯合子的哮喘患者FEV₁ 占预计值%及FEV₁ /FVC的值分别为57%、69%，携带非D型的哮喘患者其FEV₁ 占预计值%及FEV₁ /FVC的值分别为74%、79%，两组比较差异具有显著性(P<0.05)。结论 提示ACE基因D型纯合子与哮喘的遗传易感性相关，另外DD基因可能与哮喘患者肺功能损害的程度有关。

    

Polymorphism of angiotensin-converting enzyme gene and susceptibility to asthma with familial aggregation

GAO Jinming, LIN Yaoguang, XIAO Yi, et al.

    Department of Respiratory Disease, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730

【Abstract】 Objective Angiotensin-converting enzyme (ACE) plays a key role in the metabolism of angiotensin II (AT II) and inactivation of bradykinins and tachykinins, which are potent bronchial constrictors and mediators of inflammation asthma, and ACE is heavily expressed in the lungs. An insertion-deletion (D/I) polymorphism of ACE gene has been shown to be associated with levels of ACE. Whether or not the polymorphism of ACE gene is associated with asthma and bronchial responsiveness was investigated. Methods A case-control study was carried out in 50 asthmatics, 7 families with at least 2 asthmatic individuals, and 50 healthy subjects. The insertion/deletion (I/D) polymorphism of ACE gene was amplified by polymerase chain reaction (PCR). Methacholine broncho(Mch)-provocation and pulmonary function tests were performed in all asthmatics. Results There was an higher gene frequency of DD genotype of ACE gene in asthmatic subjects and families individuals compared with healthy subjects (46% vs 16%, P<0.05; Odd ratio 4.98). Accordingly, the mean values of FEV₁ % and FEV₁ /FVC were higher in asthmatics carrying non-DD alleles than patients with DD genotype (74% vs 57%, P<0.05; 79% vs 69%, P<0.05, respectively). Conclusions The results suggested that DD allele of ACE genotype was significantly involved in genetic susceptibility to asthma. DD genotype of ACE might be a risk factor for the degree of airway obstruction.

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