转录因子GATA3单核苷酸多态性与变应性鼻炎的关系

Association of single nucleotide polymorphisms of GATA3 with allergic rhinitis phenotypes in Chinese

目的研究转录因子GATA3的单核苷酸多态性（single nucleotide polymorphisms，SNP）与变应性鼻炎之间的关系。方法利用多聚酶链式反应和限制性片段长度多态性分析检测109例变应性鼻炎患者和112例健康人群外周血白细胞GATA3基因启动子区rs1269486位点和终止子下游rs2229360位点的SNP，分析患者组和对照组不同基因型和单体型频率的差异，同时分析上述两个位点不同基因型之间血清总IgE和屋尘螨、粉尘螨特异性IgE的差异。结果变应性鼻炎组和对照组的rs1269486位点和rs2229360位点均有多态性。rs1269486位点的基因型分别是纯合野生型GG，杂合型GA及纯合多态型AA；rs2229360位点的基因型分别是纯合野生型CC，杂合型CT及纯合多态型TT。变应性鼻炎组rs1269486位点的纯合野生型GG的频率以及等位基因G的频率高于对照组（X^2=13.75，P〈0.01；X^2=12.91，P〈0．01），对照组杂合型GA的频率以及等位基因A的频率高于变应性鼻炎组（X^2=11.90，P〈0．01；X^2=12．91，P〈0．01）。rs2229360位点的基因型频率和等位基因频率在变应性鼻炎组和对照组之间差异无统计学意义（P值均〉0，05）。变应性鼻炎组单体型GC频率高于对照组（X^2=114.59，P〈0.01），对照组单体型AC频率高于变应性鼻炎组（X^2=87．52，P〈0.01）。变应性鼻炎患者rs1269486位点和rs2229360位点不同基因型之间血清总IgE、屋尘螨和粉尘螨特异性IgE差异无统计学意义（P值均〉0．05）。结论GATA3基因启动子区rs1269486位点SNP与变应性鼻炎之间存在关联性。

Objective To evaluate the association between single nucleotide polymorphisms （SNP） of GATA3 and Chinese with allergic rhinitis. Methods This study included 109 patients with allergic rhinitis and 112 healthy control people. SNP of two loci with restriction fragment length polymorphism was detected, rs1269486 at promoter region and rs2229360 located 92 bp downstream of STOP codon. Total IgE and specific IgE of Der p and Der f with different genotypes of the two loci were compared. Results There was SNP at both loci of rs1269486 and rs2229360. The genotypes of rs1269486 were GG, GA and AA, and the genotypes of rs2229360 were CC, CT and TT. The frequency of genotype GG and allele G in patient group was significantly higher than that in control group （X^2 = 13.75, P 〈 0.01 ; X^2 = 12.91, P 〈 0. 01 ）, and the frequency of genotype GA and allele A in patient group was significantly lower than that in control group （X^2= 11.90,P 〈 0. 01 ;X^2= 12.91, P 〈 0.01 ）. There were no significant differences between patient group and control group for the frequencies of genotypes and alleles at rs2229360 （P 〉 0.05 ）. The haplotype frequency of GC in patient group was significantly higher than that in control group （ X^2 = 114.59, P 〈 0.01 ）, and the haplotype frequency of AC in patient group was significantly lower than that in control group （ X^2 = 87.52,P 〈 0.01 ）. There was no significant difference of the levels of serum total IgE and specific IgE to Der p and Der f with the genotypes at the two loci（ P 〉 0. 05）. Conclusions The SNP at rs1269486 of GATA3 is associated with allergic rhinitis in Chinese.