肿瘤坏死因子诱导蛋白3基因多态性与变应性鼻炎遗传易感性研究

Association between TNFAIP3 gene polymorphisms and susceptibility of allergic rhinitis in a Chinese Han population

摘要:

目的：研究肿瘤坏死因子诱导蛋白3（tumor necrosis factor alpha-inducible protein 3，TNFAIP3）基因多态性与变应性鼻炎（allergic rhinitis，AR）易感性之间的关系。方法：收集430例AR患者和480例正常对照的血标本，进行病例对照研究。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。AR组TT基因型频率（PC=7.51×10-12）和T等位基因（PC=3.79×10-12）与对照组相比明显升高，CT基因型频率（PC=3.30×10-11）和C等位基因（PC=3.79×10-12）与对照组相比明显降低。此外，CACA单体型频率在AR患者中明显降低（PC=3.29×10-10），TCCA单体型在AR患者中明显升高（PC=2.18×10-3）。结论：AR的遗传易感性与TNFAIP3基因多态性有明显相关性，且TNFAIP3的rs9494885位点多态性与AR的易感性密切相关。

Abstract:

Objective：To evaluate the potential association of tumor necrosis factor alpha-inducible protein 3（TNFAIP3） gene poly－morphisms and the susceptibility of allergic rhinitis（AR） in the Chinese population. Methods：Four single nucleotide polymorphisms （SNPs） of TNFAIP3 were genotyped in 430 AR patients and 480 health controls using a polymerase chain reaction-restriction frag－ment length polymorphism assay（PCR-RFLP）. Results：Prevalences of the rs9494885 TT genotype（PC=7.51×10-12） and T allele（PC=3.79×10-12）were found significantly increased in patients with AR. An conspicuous decreasing prevalence of the CT genotype（PC=3.30×10-11） and C allele（PC=3.79×10-12）was shown in patients with AR. In addition，the CACA haplotypes（PC=3.29×10-10） were decreased in patients，whereas TCCA haplotypes（PC=2.18×10-3） were increased. Conclusion：One novel SNPs of TNFAIP3 gene，rs9494885 is associated with susceptibility of AR.