Hsieh Meng-Hsuan, Chong Inn-Wen, Hwang Jhi-Jhu, Lee Chien-Hung, Ho Chi-Kung, Yu Ming-Lung, Huang Chia-Tsuan, Lee Chung-Ying, Wu Ming-Tsang, Christiani David C
Department of Occupational Medicine, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung, Taiwan.
Kaohsiung J Med Sci. 2008 Mar;24(3):126-37. doi: 10.1016/S1607-551X(08)70140-2.
Cytokine-induced inflammation is the predominant underlying mechanism in chronic obstructive pulmonary disease (COPD). Genetic factors may play a pivotal role in the development of this disease. This study looked at the relationship between COPD and genetic polymorphisms in the genes encoding some of these cytokines in a Taiwanese population. The genetic polymorphisms examined in this study were tumor necrosis factor (TNF)-alpha(-308), TNF-alpha(+489), interleukin(IL)-1beta(-31), interleukin-1 receptor antagonist (IL-1 RN), and IL-6(-174). In total, 30 patients with COPD, 64 subjects at risk of COPD and 115 controls were recruited to the study between 1999 and 2003. DNA was collected from these subjects and analyzed by polymerase chain reaction with sequence-specific primers and restriction enzyme fragment length polymorphism analysis. The frequencies of cytokine genotypes in COPD cases and controls, respectively, were as follows: for G/G in TNF-alpha(-308), 76.7% and 83.5%; for G/G in TNF-alpha(+489), 76.7% and 68.7%; for C/T in IL-1beta(-31), 60.0% and 55.7%; for 4R/4R in IL-1 RN, 80.0% and 86.1%; and for G/G in IL-6(-174), 100.1% and 98.3%. There was no difference in the distribution of the frequencies of these genotypes and alleles between COPD cases and controls. Moreover, no association was found between these genetic polymorphisms in cytokines and COPD (regardless of COPD subtypes) with respect to cigarette smoking or pulmonary function tests. Despite this, smoking is still an important risk factor for developing COPD.
细胞因子诱导的炎症是慢性阻塞性肺疾病（COPD）的主要潜在机制。遗传因素可能在该疾病的发展中起关键作用。本研究观察了台湾人群中COPD与编码其中一些细胞因子的基因中的遗传多态性之间的关系。本研究检测的遗传多态性包括肿瘤坏死因子（TNF）-α（-308）、TNF-α（+489）、白细胞介素（IL）-1β（-31）、白细胞介素-1受体拮抗剂（IL-1 RN）和IL-6（-174）。1999年至2003年间，共招募了30例COPD患者、64例有COPD风险的受试者和115名对照者参与该研究。从这些受试者中收集DNA，并通过序列特异性引物聚合酶链反应和限制性酶切片段长度多态性分析进行分析。COPD病例组和对照组中细胞因子基因型的频率分别如下：TNF-α（-308）的G/G型，分别为76.7%和83.5%；TNF-α（+489）的G/G型，分别为76.7%和68.7%；IL-1β（-31）的C/T型，分别为60.0%和55.7%；IL-1 RN的4R/4R型，分别为80.0%和86.1%；IL-6（-174）的G/G型，分别为100.1%和98.3%。COPD病例组和对照组之间这些基因型和等位基因频率的分布没有差异。此外，在细胞因子的这些遗传多态性与COPD（无论COPD亚型如何）之间，在吸烟或肺功能测试方面未发现关联。尽管如此，吸烟仍然是发生COPD的重要危险因素。
