Faramawy Mona M, Mohammed Tasnim O, Hossaini Aysheh M, Kashem Reem A, Abu Rahma Rania M
Second-year Medical student of Dubai Medical College for Girls, Dubai, United Arab Emirates.
J Crit Care. 2009 Sep;24(3):e7-10. doi: 10.1016/j.jcrc.2009.06.004.
Chronic obstructive pulmonary disease (COPD) represents a major public health care problem worldwide due to its increasing prevalence, morbidity and mortality. Chronic obstructive pulmonary disease is known to be the fourth leading cause of death and the only cause of death, which is increasing. It is generally accepted that cigarette smoking is the most important risk factor for COPD. Nevertheless, only 10% to 20% of chronic smokers develop the severe impairment of pulmonary functions associated with COPD. This indicates the presence of genetic predisposing factors in its pathogenesis.
To test the hypothesis that genetic polymorphism of glutathione S-transferase theta 1 (GSTT1)and/or glutathione S-transferase mu 1 (GSTM1) is associated with COPD in smokers.
A case-control study was done on 34 patients with COPD and 34 matched controls. DNA was extracted from white blood cells by salting out method. GSTT1 and GSTM1 genotypes were amplified by polymerase chain reaction. The fragments were then analyzed by agarose gel electrophoresis. Statistical analysis was done using SPSS program.
The frequency of carriers of null GSTT1 genotype was 50% among cases compared to 44.1% in the control group. Carriers of null GSTT1 were at minor risk of developing COPD when compared with carriers of the wild GSTT1 genotype (OR, 1.3; 95% CI, 0.5-3.3). In case of GSTM1, the frequency of carriers of null GSTM1 genotype was 52.9% among cases compared to 26.5% in controls. Carriers of null GSTM1 were at much higher risk of developing COPD (OR, 3.13; 95% CI, 1.1-8.6). Furthermore, the risk of developing COPD was increased among carrier of null GSTT1 & GSTM1 haplotype (OR, 3.6; 95% CI, 1.1-11.6).
Carriers of null GSTM1 genotype were at high risk of developing COPD especially when they were null GSTT1 and GSTM1 haplotype.
慢性阻塞性肺疾病(COPD)因其患病率、发病率和死亡率不断上升,已成为全球主要的公共卫生保健问题。慢性阻塞性肺疾病是已知的第四大死因,也是唯一呈上升趋势的死因。普遍认为吸烟是慢性阻塞性肺疾病最重要的危险因素。然而,只有10%至20%的长期吸烟者会出现与慢性阻塞性肺疾病相关的严重肺功能损害。这表明其发病机制中存在遗传易感因素。
检验谷胱甘肽S-转移酶θ1(GSTT1)和/或谷胱甘肽S-转移酶μ1(GSTM1)基因多态性与吸烟者慢性阻塞性肺疾病相关的假设。
对34例慢性阻塞性肺疾病患者和34例匹配对照进行病例对照研究。采用盐析法从白细胞中提取DNA。通过聚合酶链反应扩增GSTT1和GSTM1基因型。然后通过琼脂糖凝胶电泳分析片段。使用SPSS程序进行统计分析。
病例组中GSTT1基因缺失基因型携带者的频率为50%,而对照组为44.1%。与野生GSTT1基因型携带者相比,GSTT1基因缺失携带者患慢性阻塞性肺疾病的风险较小(比值比,1.3;95%可信区间,0.5 - 3.3)。对于GSTM1,病例组中GSTM1基因缺失基因型携带者的频率为52.9%,而对照组为26.5%。GSTM1基因缺失携带者患慢性阻塞性肺疾病的风险要高得多(比值比,3.13;95%可信区间,1.1 - 8.6)。此外,GSTT1和GSTM1基因缺失单倍型携带者患慢性阻塞性肺疾病的风险增加(比值比,3.6;95%可信区间,1.1 - 11.6)。
GSTM1基因缺失基因型携带者患慢性阻塞性肺疾病的风险较高,尤其是当他们同时为GSTT1和GSTM1基因缺失单倍型时。