慢性阻塞性肺疾病易感性与中国汉族人白细胞介素-13基因多态性的关联研究

目的 探讨中国人白细胞介素(IL)-13基因单核苷酸多态性(SNP)与慢性阻塞性肺疾病(COPD)易感性的关系。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析及PCR-单链构像多态性分析(SSCP)方法,检测94名健康吸烟者和88例吸烟COPD患者IL-13基因启动子1103C/T、4257G/A、4738G/A SNP位点基因型分布情况;用酶联免疫吸附试验(ELISA)检测血浆IL-13水平。结果 COPD组与对照组4257G/A、4738G/A位点基因型分布频率和等位基因频率差异无显著性(P>0.1);对照组1103C/T位点CC基因型频率及C等位基因频率高于COPD组(P<0.05),C等位基因相对于T等位基因患COPD的机会比为0.56(95％CI:0.34～0.91)。血浆IL-13浓度与4257G/A及4738G/A位点基因型无关(P>0.1),1103CC基因型携带者血浆IL-13水平显著低于另外两种基因型携带者(P<0.05)。结论 中国人IL-13基因1103C/T位点基因型与COPD易感性有关,1103CC基因型携带者血浆IL-13水平相对较低,COPD易感性低。

Study on the correlation of interleukin-13 polymorphism and susceptibility to chronic obstructive pulmonary disease in Chinese Han population

Objective To investigate the polymorphism of interleukin (IL)-13 gene in Chinese Hanpopulation, and to study the possible association of IL-13 polymorphism and the susceptibility to chronicobstructive pulmonary disease (COPD). Methods Using genomic DNA extracted with phenol: chloroform:isoamyl alcohol from the blood of 94 healthy smokers and 88 COPD smokers, three single nucleotidepolymorphism (SNP) sites in IL-13 gene marked as 1103C/T, 4257G/A, 4738G/A were determined bypolymerase chain reaction/restriction fragment length polymorphism analysis or poymerase chain reaction/single strand conformation analysis. In addition, plasma IL-13 concentration was measured by ELISA on 24healthy smokers and 24 smokers with chronic obstructive pulmonary disease. Results (1) To 4257G/Aand 4738G/A SNP sites, the genotype frequencies and allele frequencies were not significantly differentbetween healthy smokers and COPD smokers (P>0.l). (2) To 1103C/T SNP site, relative higher CCgenotype frequency and C allele frequency were found in healthy smokers (P<0.05), also C allele couldprevent smokers from chronic obstructive pulmonary disease, with OR 0. 56 and 95% confidence intervalwas 0. 34-0. 91.(3) Plasma IL-13 concentration was not affected by genotype of 4257G/A or 4738G/ASNP sites. However, 1103CC showed for significantly lower IL-13 concentration in plasma (P<0.05).Conclusion The genotype of lL-13 1103C/T SNP site was associated with the susceptibility to COPD inChinese Han population and 1103CC accounted for relative lower plasma IL-13 concentration and lower riskfor COPD.