IL-18启动子区基因多态性与江西汉族人群哮喘的关系

Association of polymorphisms in interleukin-18 gene promoter region with asthma in Jiangxi Han population

目的:探讨IL-18基因启动子区-607C/A、-137G/C多态性与江西汉族人群支气管哮喘(简称哮喘)及其临床表型的关系。方法:采用序列特异性引物聚合酶链反应(PCR-SSP)和DNA测序技术对102例哮喘患者(A组)[其中合并过敏性鼻炎40例(A1组),不合并过敏性鼻炎62例(A2组)]及100例健康对照者(B组)IL-18基因启动子区1-607C/A、-137G/C基因型多态性进行检测。结果:-607C等位基因频率在A、A1、A2、B组中分别为50.0%、40.0%、56.5%、45.5%,A2和A1两组比较差异有显著性(P<0.05);-137C等位基因频率在A、A1、A2、B组中分别为17.2%、27.5%、10.5%、16.0%,A1和B两组比较差异有显著性(P<0.05),A1和A2比较差异有显著性(P<0.01)。-607C/-137G单倍体基因频率在A、A1、A2、B组中分别为45.1%、33.7%、52.4%、41.5%,A2和A1两组比较差异有显著性(P<0.01);-607A/-137C单倍体基因频率在A、A1、A2、B组中分别为12.3%、21.3%、6.5%、12.0%,A1和A2两组比较差异有显著性(P<0.01)。结论:IL-18-137C等位基因与江西汉族人群哮喘合并过敏性鼻炎有关,IL-18-607C/A、-137G/C基因多态性在哮喘合并过敏性鼻炎和哮喘不合并过敏性鼻炎患者中频率分布不同。提示IL-18可能在哮喘和过敏性鼻炎发病机制中所起的作用不同。

Objective： To investigate the association of IL-18 gene promoter polymorphisms -607C/A,-137G/C with asthma in the Hans from Jiangxi province of China. Methods：Using polymerase chain reaction with sequence specific primer（pcr-ssp）/sequence method, the single nucleotide polymorphisms （SNPs） of the promoter region of IL-18 gene at position -607 and -137 were detected in 102 asthmatic patients （group A） [40 patients with asthma and allergic rhinitis（AR） （group A1）,62 patients with asthma Without AR （group A2）] and 100 healty controls （group B） .Results：The frequencies of allele C at position -607 in the promoter of IL-18 gene were 50.0% （group A） ,40.0% （group A1 ）, 56.5 % （ group A2）, and 45.5 % （ group B）, respectively. The frequency of allele C in group A2 was significantly higher than that in group A1 （P〈0.05）.The frequencies of allele C at position -137 in the promoter of IL-18 gene were 17.2% （group A）,27.5% （group A1）, 10.5 % （group A2）, and 16.0% （group B）. The frequency of allele C in group A1 was significantly higher than that in group B （P 〈 0.05） and that in group A2 （P 〈 0. 01 ）. The frequencies of-607C/-137G haplotypes were 45.1% （group A）, 33.7 % （group A1 ）, 52.4% （group A2） ,and 41.5% （group B）. The frequency of-607C,/-137G haplotypes in group A2 was significantly higher than that in group A1 （P 〈 0.01）.The frequencies of -607A/-137C haplotypes were 12.3% （group A）,21.3% （group A1）,6.5% （group A2）,and 12.0% （group B）. The frequency of-607A/-137C haplotypes in group A1 was significantly higher than that in group A2（ P 〈 0.01 ）. Conclusion： Allele C at position -137 in the promoter region of IL-18 gene is associated with the patients with asthma and AR in the Hans from Jiangxi province of China. The distribution of the single nucleotide polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are different between the patients with asthma and AR and the patients with asthma without AR.These findings imply that the role of IL-18 in the pathophysiology of asthma is different from its role in allergic rhinitis.