摘要
目的探讨IL-4、IL-13单核苷酸多态性（singlenueleotidepolyrnorphisms，SNPs）与中国东南方汉族人群支气管哮喘（简称哮喘）发病危险性和哮喘相关表型的关系。方法挑选位于IL-4起动子区SNPsrs2243250（-589T／C），IL-13第四外显子区的非同义突变SNPsrs20541（＋2044C／T）和启动子区SNPsrsl800925（-1112C〉T）。连续性招募哮喘患者318例，正常对照352例。采用多重PCR结合标签阵列单碱基延伸技术进行基因分型。通过病例一一对照研究分析这些位点与哮喘及哮喘表型的关系。结果IL-4rs2243250、IL-13rs20541、rsl800925的等位基因及基因型分布频率在哮喘组与对照组差异无统计学意义（P〉0．05），该3个位点共生成8种主要单倍型，在哮喘组和对照组中的分布亦无统计学差异，该3个位点SNPs与哮喘发病危险度无相关性。该3个位点SNPs与哮喘患者的外周血嗜酸粒细胞、肺功能、超敏C反应蛋白（hsCRP）、血浆总IgE、哮喘严重度分级均无相关性。结论IL-4、IL-13SNPs与哮喘发病危险性和哮喘相关表型无相关性。
Objective To evaluate the effects of interleukin （IL）-4 and IL-13 single nueleotide polymorphisms （SNPs） on asthma risk and asthma-related phenotypes in a southeastern Chinese Han Population. Methods rs2243250 located in the promoter region of IL-4 gene, rs20541 and rs1800925 located in the fourth exon and promoter region of IL-13 gene respectively, were selected. We consecutively recruited 318 unrelated adult asthmatic patients and 352 healthy volunteers from the same area of southeast China. Genotyping of the selected SNPs was performed using multiplex PCR in conjunction with tagged array single base extension technology. We conducted case-control association studies between the selected SNP and asthma or asthma-related phenotypes. Results There seemed to be similar allele/genotype distributions of IL-4 rs2243250, IL-13 rs20541 and IL13 rs1800925 SNPs between controls and cases （P i〉0.05）. Haplotypes were reconstructed incorporating all three SNPs, namely, rs2243250, rs20541 and rs1800925 in order, and eight haplotypes were generated. No significant difference of the distributions of haplotypes was observed between cases and controls. The polymorphisms of the three sites were not associated with the susceptibility of asthma. Also, no association was found between the SNPs and eosinophil counts, lung function, serum levels of high- sensitivity C reactive protein （hs-CRP）, total serum IgE levels or asthma severity. Conclusions IL-4 and IL-13 polymorphisms were not associated with the susceptibility of asthma and asthma-related phenotypes.
出处
《国际呼吸杂志》
2012年第20期1561-1565,共5页
International Journal of Respiration
基金
江苏省医学重点学科开放课题（KF200920）
常州市卫生局重大课题（ZD201002）
常州市卫生局青年基金（QN200904）
