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目的：探讨肿瘤坏死因子α（tumor necrosis factor-α,TNF-α）-863C/A 基因多态性与慢性阻塞性肺疾病（chronic obstructive pulmonary disease, COPD）间的关系。方法：采用多重聚合酶链- 高温连接酶检测反应（PCR-LDR）方法研究56 例吸烟COPD 患者、64例吸烟正常对照组的TNF-α-863位点基因型及A等位基因的分布情况。结果：（1）吸烟COPD 组在-863 位点上的CA 基因型及A等位基因频率均低于吸烟非COPD组（P<0.05）。（2）重度、极重度COPD组在该位点的CA基因型频率和A等位基因频率均低于轻中度COPD组（P<0.05）。在COPD组中携带A 等位基因的患者有着更高的第1 秒呼气量/ 用力肺活量（FEV1/FVC）和体重指数（BMI）（P<0.05）。（3）吸烟COPD 组携带CA 基因型的患者肺源性心脏病的发病率高于携带CC 基因型的患者（P<0. 05）。（4）吸烟COPD组的BMI[(22.0±3.1)kg/m2]较吸烟非COPD 组[(24.5±3.7)kg/m2]低，重度、极重度COPD 组BMI[(21.2±3.0) kg/m2]较轻中度COPD 组[(23.3±3.3)kg/m2]低，差异均有统计学意义（P<0.05）。结论：TNF-α-863 位点A 等位基因的发生对 COPD患者是一个保护性因素。低BMI与COPD关系密切，BMI可能成为预测COPD患者病情严重程度的一个重要指标。

英文摘要:

Objective: To study the relationship between tumor necrosis factor-α-863C/A gene polymorphisms and chronic obstructive pulmonary disease (COPD). Methods: Polymerase chain reaction-ligase detection reaction-based sequence analysis was applied to determine the frequencies of genotypes and allele of TNF-α-863 in 56 cases of patients with smoking-related COPD and a control group of 64 smokers. Results: The frequencies of TNF-α-863 CA and A allele in COPD patients were lower than the control group (P<0. 05), and the severe subgroups were lower than non-severe subgroups (P<0.05). The CA genotype was associated with a better FEV1/FVC ratio, and higher BMI (P<0.05). The prevalence of chronic pulmonary heart disease in the CA genotypes was higher than the CC genotypes in COPD group (P<0.05). Compared with non-COPD subjects, BMI was lower in COPD patients[(22.0±3.1) vs (24.5±3.7)kg/m2, P<0.05]; BMI was also lower in the severe subgroups[(21.2±3.0) vs (23.3±3.3)kg/m2, P<0.05]. Conclusions: The TNF-α-863 A allele may be a protective factor for COPD. Lower BMI was strongly associated with COPD, possibly as a potential predictor for COPD severity.

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