TNFAIP3基因多态性与变应性鼻炎遗传易感性的关联性研究

Relevancy Between Gene Polymorphism of Tumor Necrosis Factor Alpha-induced Protein 3 and Genetic Susceptibility of Allergic Rhinitis

目的探究肿瘤坏死因子α诱导蛋白3(tumor necrosis factor alpha-induced protein 3,TNFAIP3)基因多态性与变应性鼻炎(allergic rhinitis,AR)遗传易感性的关联性。方法收集2014年1月至2015年8月我院200例AR患者和200例正常对照的血标本,进行病例对照研究,分别为病例组和对照组,运用限制性片段长度多态性聚合酶链反应和直接测序的方法对从抗凝血中提取的DNA样本中TNFAIP3基因的4个多态位点(rs5029928,rs9494885,rs610604,rs7753873)进行基因分型。结果病例组和对照组TNFAIP3基因的4个多态性位点基因分型均符合哈迪温伯格平衡。位点rs9494885的等位基因和基因型频率在病例组和对照组中存在统计学差异。病例组的CACA单体型频率明显低于对照组,且经统计学分析差异具有显著性(χ2=39.111,P<0.05),病例组的TCCA单体型频率明显高于对照组,且经统计学分析差异具有显著性(χ2=9.412,P<0.05)。其余指标比较均无明显差异(P>0.05)。结论变应性鼻炎与肿瘤坏死因子诱导蛋白3基因多态性有明显关联性,且TNFAIP3的rs9494885位点多态性与AR的易感性密切相关。

Objective To explore the relevancy between the gene polymorphism of tumor necrosis factor alphainduced protein 3（TNFAIP3） and the genetic susceptibility of allergic rhinitis（AR）.Methods Blood samples from 200 patients with AR in our hospital from January 2014 to August 2015 and 200 healthy subjects（the control group） were collected.The DNA samples were extracted from the anticoagulant blood,and genotyping of4 polymorphic loci（rs5029928,rs9494885,rs610604,rs7753873） of the TNFAIP3 gene in the sample was performed by using the polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） and direct sequencing.Results The genotype from 4 polymorphic loci of the TNFAIP3 gene in AR group and the control group was in line with the Weinberg Hardy equilibrium.There were statistically significant differences in allele and genotype frequencies in the rs9494885 between the two groups.In AR group,haplotype frequencies of CACA were significantly lower than that of the control group,and the difference was statistically significant（χ2= 39.111,P〈0.05）.In AR group,haplotype frequencies of TCCA significantly higher than that of the control group（χ2= 9.412,P〈0.05）.There were no significant differences in the other indicators（P〈0.05）.Conclusion There is a significant relevancy between gene polymorphism of TNFAIP3 and genetic susceptibility of AR,and rs9494885 polymorphism of TNFAIP3 gene goes hand in hand with the susceptibility of AR.