Department of Respiratory Medicine, West China Hospital, West China Medical School, Sichuan University, Chengdu, Sichuan 610041, China.
Chin Med J (Engl). 2010 Feb 20;123(4):390-4.
The main risk factor for chronic obstructive pulmonary disease (COPD) is cigarette smoking. However, only 10% - 20% of chronic heavy smokers develop systematic COPD. We hypothesized that the inheritance of gene polymorphisms could influence the development of COPD, which was investigated by studying two single nucleotide polymorphisms (SNP) in exon 1 of the transforming growth factor-beta1 (TGF-beta1) gene.
We enrolled 219 patients with COPD as the research group and 148 healthy people as the control group, all of whom were Chinese Han people. The polymorphisms of the TGF-beta1 gene, 869T/C and 915G/C, were analyzed using the method of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).
The occurrence of the TGF-beta1 gene 869T/C polymorphism in patients with COPD was significantly different from the control group (P < 0.05), in which the relative risk of this disease increased in cases who had the C allele (OR: 1.131, 95%CI: 1.101 - 1.539). There was no increased frequency of TGF-beta1 915G/C gene in COPD patients compared with control subjects (P > 0.05).
The polymorphism 869T/C in TGF-beta1 gene has a significant association with disease occurrence in COPD patients and the C allele might be a risk factor. The homozygous wild-type CC of 869T/C on TGFbeta1 could be a predisposing factor in COPD and those who carry the C allele might have particularly susceptibility to developing COPD.
慢性阻塞性肺疾病（COPD）的主要危险因素是吸烟。然而，只有 10%-20%的慢性重度吸烟者会发展为系统性 COPD。我们假设基因多态性的遗传可能会影响 COPD 的发生，这一点通过研究转化生长因子-β1（TGF-β1）基因外显子 1 中的两个单核苷酸多态性（SNP）来研究。
我们招募了 219 名 COPD 患者作为研究组和 148 名健康人作为对照组，均为汉族人。采用扩增受阻突变系统-聚合酶链反应（ARMS-PCR）方法分析 TGF-β1 基因的多态性 869T/C 和 915G/C。
COPD 患者 TGF-β1 基因 869T/C 多态性的发生与对照组有显著差异（P<0.05），其中 C 等位基因的疾病相对风险增加（OR：1.131，95%CI：1.101-1.539）。与对照组相比，COPD 患者 TGF-β1 915G/C 基因无增加的频率（P>0.05）。
TGF-β1 基因多态性 869T/C 与 COPD 患者的发病有显著相关性，C 等位基因可能是一个危险因素。TGFbeta1 上的 869T/C 纯合野生型 CC 可能是 COPD 的易患因素，携带 C 等位基因的人可能特别容易发展为 COPD。
