Baranova H, Perriot J, Albuisson E, Ivaschenko T, Baranov V S, Hemery B, Mouraire P, Riol N, Malet P
Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine, Université d'Auvergne, Clermont-Ferrand, France.
Hum Genet. 1997 Jun;99(6):822-6. doi: 10.1007/s004390050455.
A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and hard smokers (HS) with no permanent clinical symptoms of chronic bronchitis (n = 172). The GSTM1 0/0 genotype was found in 71.3% and 65.7% of cases in SCB and MCB, respectively, compared with only 47.1% in the control HS group (P = 0.0002). This latter figure (47.1%) is consistent with the average GSTM1 deletion frequency in French Caucasians. Moreover, the results showed a significant difference in the distribution of the GSTM1 0/0 genotype for both the SCB and MCB groups against the control HS group, according to gender (SCB: P = 0.001; MCB: P = 0.005), age (SCB: P = 0.0001; MCB: P = 0.005) and smoking history (SCB: P = 0.0001; MCB: P = 0.005). Thus, individuals homozygous for the GSTM1 gene deletion, especially in the under-41 age group (SCB: P = 0.001; MSB: P = 0.04) with an average smoking history of 16-30 pack-years (SCB: P = 0.002; MSB: P = 0.01) are more prone to chronic lung diseases, such as SCB and MCB, than are GSTM1 +/+ or 0/+ subjects. Population screening of young people for the identification of GSTM1 0/0 subjects, with special emphasis on smoking habits, might be useful (1) for the early detection of individuals at high risk of lung complications caused by environmental toxins and pollutants and (2) in clinical practice, in order to prevent the development of chronic bronchitis, which is a common disease.
采用聚合酶链反应，对一组法国重度吸烟者（n = 361）血斑基因组DNA中的谷胱甘肽S - 转移酶M1（GSTM1）基因座纯合缺失情况进行了研究。该组包括重度慢性支气管炎患者（SCB；n = 87）、中度慢性支气管炎患者（MCB：n = 102）以及无慢性支气管炎永久性临床症状的重度吸烟者（HS）（n = 172）。结果发现，SCB组和MCB组中GSTM1 0/0基因型的比例分别为71.3%和65.7%，而对照HS组仅为47.1%（P = 0.0002）。后一数字（47.1%）与法国白种人中GSTM1缺失的平均频率一致。此外，结果显示，SCB组和MCB组中GSTM1 0/0基因型的分布与对照HS组相比，在性别（SCB：P = 0.001；MCB：P = 0.005）、年龄（SCB：P = 0.0001；MCB：P = 0.005）和吸烟史（SCB：P = 0.0001；MCB：P = 0.005）方面均存在显著差异。因此，与GSTM1 +/+或0/+个体相比，GSTM1基因缺失纯合个体，尤其是年龄在41岁以下（SCB：P = 0.001；MSB：P = 0.04）且平均吸烟史为16 - 30包年的个体（SCB：P = 0.002；MSB：P = 0.01）更容易患慢性肺部疾病，如SCB和MCB。对年轻人进行GSTM1 0/0个体筛查，特别关注吸烟习惯，可能（1）有助于早期发现因环境毒素和污染物导致肺部并发症的高危个体，（2）在临床实践中，有助于预防慢性支气管炎这一常见疾病的发生。
