Hu Rui-cheng, Xu Yong-jian, Zhang Zhen-xiang
Department of Respiratory Medicine, Affiliated Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2004 Jul;25(7):607-11.
To investigate the polymorphism of interleukin (IL)-13 gene in Chinese Han population, and to study the possible association of IL-13 polymorphism and the susceptibility to chronic obstructive pulmonary disease (COPD).
Using genomic DNA extracted with phenol:chloroform:isoamyl alcohol from the blood of 94 healthy smokers and 88 COPD smokers, three single nucleotide polymorphism (SNP) sites in IL-13 gene marked as 1103C/T, 4257G/A, 4738G/A were determined by polymerase chain reaction/restriction fragment length polymorphism analysis or polymerase chain reaction/single strand conformation analysis. In addition, plasma IL-13 concentration was measured by ELISA on 24 healthy smokers and 24 smokers with chronic obstructive pulmonary disease.
(1) To 4257G/A and 4738G/A SNP sites, the genotype frequencies and allele frequencies were not significantly different between healthy smokers and COPD smokers (P > 0.1). (2) To 1103C/T SNP site, relative higher CC genotype frequency and C allele frequency were found in healthy smokers (P < 0.05), also C allele could prevent smokers from chronic obstructive pulmonary disease, with OR 0.56 and 95% confidence interval was 0.34 - 0.91. (3) Plasma IL-13 concentration was not affected by genotype of 4257G/A or 4738G/A SNP sites. However, 1103CC showed for significantly lower IL-13 concentration in plasma (P < 0.05).
The genotype of IL-13 1103C/T SNP site was associated with the susceptibility to COPD in Chinese Han population and 1103CC accounted for relative lower plasma IL-13 concentration and lower risk for COPD.
研究白细胞介素（IL）-13基因在中国汉族人群中的多态性，探讨IL-13基因多态性与慢性阻塞性肺疾病（COPD）易感性之间的可能关联。
采用酚：氯仿：异戊醇从94名健康吸烟者和88名COPD吸烟者的血液中提取基因组DNA，通过聚合酶链反应/限制性片段长度多态性分析或聚合酶链反应/单链构象分析确定IL-13基因中标记为1103C/T、4257G/A、4738G/A的三个单核苷酸多态性（SNP）位点。此外，采用酶联免疫吸附测定法（ELISA）检测24名健康吸烟者和24名COPD吸烟者的血浆IL-13浓度。
（1）对于4257G/A和4738G/A SNP位点，健康吸烟者和COPD吸烟者的基因型频率和等位基因频率差异无统计学意义（P>0.1）。（2）对于1103C/T SNP位点，健康吸烟者中CC基因型频率和C等位基因频率相对较高（P<0.05），C等位基因可降低吸烟者患慢性阻塞性肺疾病的风险，比值比（OR）为0.56，95%置信区间为0.34 - 0.91。（3）血浆IL-13浓度不受4257G/A或4738G/A SNP位点基因型的影响。然而，1103CC基因型者血浆IL-13浓度显著降低（P<0.05）。
IL-13基因1103C/T SNP位点的基因型与中国汉族人群COPD易感性相关，1103CC基因型者血浆IL-13浓度相对较低，患COPD的风险也较低。
