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

Association between polymorphism of S2,ST+4,ST+5 locus in ADAM33 gene and bronchial asthma in Xinjiang Uyghur 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);ADAM33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。

Objective To investigate the association of the S2,ST＋4,ST＋5locus in the ADAM33 gene polymorphism with bronchial asthma of Uygur adult population in Xinjiang.Methods Extract DNA from206 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＋5locus 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（χ^2=6.779,P =0.034）.But ST＋4and ST＋5had no statistical significance（P〉0.05）.The comparison of allelic frequencies of S2,ST＋4,ST＋5locus had no statistical significance（P〉0.05）.There was weak linkage disequilibrium between ST＋4and ST＋5in ADAM33gene;Linkage disequilibrium analysis showed that Hap4（CCT）in asthmatics was much lower than in controls（χ^2=4.761,P =0.029）,while Hap6（GAT）was much higher than in controls（χ^2=10.012,P =0.002）.Conclusion The Polymorphism of the S2,ST＋4,and ST＋5locus 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.