Z and S mutations of the α1-antitrypsin gene and the risk of chronic obstructive pulmonary disease
Z and S mutations of the α1-antitrypsin gene and the risk of chronic obstructive pulmonary disease
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DOI：
10.1165/ajrcmb.20.2.3177
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发表时间：
1999-02-01
影响因子：
6.4
通讯作者：
Paré, PD
中科院分区：
文献类型：
--
作者：
Sandford, AJ;Weir, TD;Paré, PD
在一些研究中，慢性阻塞性肺疾病（COPD）与α（1）-抗胰蛋白酶基因的Z和S等位基因的杂合性有关，但这些观察结果尚未得到其他研究的证实。吸烟是COPD的主要危险因素，在许多先前的研究中可能是一个混杂因素。我们研究了是否Z或S等位基因在COPD重度吸烟者组中比在非阻塞性吸烟者组中更普遍。对266例肺叶或肺切除术患者进行了1 s用力呼气容积和用力肺活量测定。这些肺功能测量用于将患者分为COPD组和非阻塞对照组。使用基于聚合酶链反应的技术对受试者的α（1）-抗胰蛋白酶基因的Z和S等位基因进行分型。在COPD患者中，193例中有12例（6%）为Z等位基因（MZ）杂合子，而73例对照组中0例。校正年龄、性别和吸烟史后，P值为0.04。S等位基因与COPD无相关性。结果表明，Z，而不是S，等位基因是一个危险因素，COPD在杂合子状态。
Chronic obstructive pulmonary disease (COPD) has been associated with heterozygosity for the Z and S alleles of the alpha(1)-antitrypsin gene in some studies, but these observations have not been confirmed by others. Cigarette smoking is the major risk factor for COPD and may have been a confounding factor in many of the previous studies. We investigated whether the Z or S alleles were more prevalent in a group of heavy smokers with COPD than in a group of nonobstructed smokers. Forced expiratory volume in 1 s and forced vital capacity were derived for 266 patients undergoing lobar or lung resection. These lung-function measurements were used to divide the patients into a COPD group and a group of nonobstructed control subjects, The subjects were typed for the Z and S alleles of the alpha(1)-antitrypsin gene using a polymerase chain reaction-based technique, In the COPD patients, 12 of 193 (6%) were heterozygous for the Z allele (MZ) compared with 0 of 73 control subjects, which gave a P value of 0.04 after correction for age, gender, and smoking history. Then was no association of the S allele with COPD. The results indicate that the Z, but not the S, allele is a risk factor for COPD in the heterozygous state.