摘要
目的探讨Toll样受体7、8(TLR7/8)单核苷酸多态性在江苏省汉族人群中与哮喘发病危险性和哮喘相关表型的关系。方法收集哮喘患者318例为哮喘组,正常人352例为对照组。挑选TLR7 rs5935436,TLR8rs3761623和rs3764880三个多态位点,采用多重PCR结合标签阵列单碱基技术(SNPstream)进行基因分型。采用ELISA法测定血浆总IgE水平。结果 rs5935436 T等位基因是男性哮喘的保护因素,rs5935436 T等位基因分布频率在男性对照组中大于男性哮喘组(5.50%比0.74%,校正OR=0.126,95%CI=0.016～0.995,P=0.049)。男性无过敏性鼻炎的哮喘患者中rs3761623 G等位基因分布频率明显升高(校正OR=3.782,95%CI=1.022～14.045,P=0.047),而女性有过敏性鼻炎的哮喘患者中rs5935436 CT/TT基因型分布频率明显降低(校正OR=0.180,95%CI=0.041～0.902,P=0.037)。rs3761623 AA基因型和rs3764880 GG基因型与女性哮喘患者的低FEV1%有关,并且与女性哮喘患者的严重度分级呈正相关。单倍型分析也有相同结果。结论 TLR7/8单核苷酸多态性与哮喘密切相关,而且与性别有关,这对于筛选哮喘高危人群和哮喘预防有重要意义。
Objective To evaluate the effects of polymorphisms in TLR7 and TLR8 on asthma risk and asthma-related phenotypes in Han population of Jiangsu province of China. Methods We consecutively recruited 318 unrelated adult asthmatic patients and 352 healthy volunteers of Han population from the same area in Jiangsn province. Genotyping of the selected SNPs, TLR7 rs5935436, TLR8 rs3761623 and rs3764880 was performed using multiplex PCR combinedwith tagged array single base extension technology （SNPstream）. Total IgG level in serum was determined by ELISA. We conducted case-control and case-only association studies between the selected SNPs in TLR7 and TLR8 and asthma or asthma-related phenotypes. Results The T allele of rs5935436 SNP in TLR7 was a protective factor for males in de- veloping asthma（ adjusted OR = 0. 126, 95% CI = 0. 016-0. 995, P = 0. 049 ）. The G allele of the rs3761623 appeared more frequently in male asthmatics without allergic rhinitis （ adjusted OR = 3. 782, 95% CI = 1. 022-14. 045, P = 0.047）, while the CT/TT genotype of the rs5935436 appeared less frequently in female asthmatics with allergic rhinitis （ adjusted OR = 0. 180, 95 % CI = 0. 041-0. 902, P = 0. 037 ）. The homozygote AA of rs3761623 and GG of rs3764880 were positively associated with lower FEV1% and asthma severity in female asthmatics. These results were confirmed by haplotype analysis. Conclusion TLR7/8 polymorphisms may play an important role in the pathogenesis of asthma, which is gender-dependent. This could be clinically useful to identify patients at risk of asthma and prevent the occur- rence of asthma.
出处
《山东大学学报（医学版）》
CAS
北大核心
2013年第2期93-98,共6页
Journal of Shandong University:Health Sciences
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)
关键词
基因
多态性
哮喘
TOLL样受体
表型
特应症
江苏省
汉族人群
Gene, polymorphism
Asthma
Toll-like receptors
Phenotype
Atopy
Jiangsu province
Han population
