新疆维吾尔族哮喘与 ADAM33基因 S2、ST＋4、ST＋5位点多态性的相关性研究

摘要

Objective To investigate the association of the S2,ST+4,ST+5 locus in the ADAM33 gene polymorphism with bronchial asthma of Uygur adult population in Xinjiang.Methods Extract DNA from 206 Uygur patients with bronchial asthma (asthma group)and 140 Uygur healthy individuals (control group).PCR-RFLP was used to determine polymorphism of S2,ST+4,ST+5 locus in ADAM33 gene, in which a part of the samples were chosen for genetic testing.Results The comparison of three genotypes of the S2 in the ADAM33 had statistical significance in asthma group and control group (χ2=6.779,P =0. 034).But ST + 4 and ST + 5 had no statistical significance (P > 0.05 ).The comparison of allelic frequencies of S2,ST+4,ST+5 locus had no statistical significance (P >0.05).There was weak linkage disequilibrium between ST+4 and ST+5 in ADAM33 gene;Linkage disequilibrium analysis showed that Hap4 (CCT)in asthmatics was much lower than in controls (χ2 =4.761,P =0.029),while Hap6 (GAT) was much higher than in controls (χ2 =10.012,P =0.002).Conclusion The Polymorphism of the S2,ST+4,and ST+ 5 locus in the ADAM33 gene had significant correlation with bronchial asthma of Uygur population of adults in Xinjiang.The susceptible and protective haplotypes of asthmatics may exist in Uygur population.%目的：探讨解整合素-金属蛋白酶33基因（ADAM33）3个位点（S2、ST＋4、ST＋5）单核苷酸多态性与新疆维吾尔族成人支气管哮喘的相关性。方法提取206例新疆维吾尔族成人支气管哮喘患者（哮喘组）与140例新疆维吾尔族成人健康体检者（对照组）的血液基因组 DNA，采用限制性片段长度多态性方法分析 ADAM33基因 S2、ST＋4、ST＋5位点单核苷酸多态性，并对其中部分进行基因检测验证。结果两组 ADAM33基因 S2位点3种基因型分布差异有统计学意义（χ2＝6．779，P ＝0．034），ST＋4、ST＋5位点3种基因型分布差异均无统计学意义（P ＞0．05）。ADAM33基因 S2、ST＋4、ST＋5位点等位基因频率分布差异均无统计学意义（P ＞0．05）；AD-AM33基因 ST＋4与 ST＋5位点存在着弱连锁不平衡；哮喘组 Hap4（CCT）显著低于对照组（χ2＝4．761，P ＝0．029），Hap6（GAT）显著高于对照组（χ2＝10．012，P ＝0．002）。结论 ADAM33基因 S2、ST＋4和 ST＋5位点单核苷酸多态性与新疆维吾尔族成人支气管哮喘具有相关性，在维吾尔族群体中 ADAM33基因很可能存在有特异性易感的单体型或保护性单体型。