CD14基因多态性与儿童特应性疾病的相关性

目的研究脂多糖受体基因（CD14）多态性在温州地区汉族儿童中的分布特征及其与特应性疾病的关联。方法特应征组113例,病例入选符合下列标准：（1）年龄2～12岁的汉族儿童;（2）临床诊断为哮喘、过敏性鼻炎或特应性皮炎;（3）血清总IgE升高;（4）血清特异性IgE阳性。选取2～12岁正常体检儿童79例为对照组。应用免疫荧光法测定血清总IsE,UniCAP系统测定sIgE。应用测序法测定两组儿童CD14基因序列,寻找多态位点,调查多态位点的分布特征,比较两组儿童多态位点的基因型频率和等位基因频率,比较不同基因型的血浆IgE水平。结果（1）特应征组和对照组儿童均发现CD141—159多态性,以TT基因型为主,未发现其他多态位点。其中对照组儿童TT、TC、CC3种基因型频率分别为57．0％、28．0％和15．0％,特应征组儿童TT、TC、CC3种基因型频率分别为46.9％、35．4％和17．7％,按Hardy-Weinberg平衡吻合度检验,差异无统计学意义（x^2=3．462,P〉0．05）。两组的基因型频率和等位基因频率分布差异无统计学意义（x^2=1．918,P〉0．05）。（2）不同性别间基因型频率差异无统计学意义（x^2=3．458,P〉0．05）。（3）经对数转换,CD14/—159CC基因型、TC基因型和TT基因型的血清IgE分别为（2500±460）IU／L、（2400±460）IU／L、（2520±460）IU／L,方差分析差异无统计学意义（F=0．807,P〉0．05）。结论（1）温州地区汉族儿童存在CD141—159多态性,未发现CD14基因其他多态位点。温州地区汉族儿童CD141—159基因型以TT为主。（2）未发现CD141—159基因型和特应征发病及IgE水平之间的关联。

Association of CD14 gene polymorphism with atopic diseases in Chinese Han ethnic group children

OBJECTIVE: To investigate the distribution characteristics of the single nucleotide polymorphisms (SNPs) of the human CD14 gene in Chinese Han ethnic group children in Wenzhou, and their association with atopic diseases. METHODS: Totally 113 cases were recruited in atopic disease group who met the following criteria: 2 - 12 years old, clinically diagnosed as asthma or allergic rhinitis or atopic dermatitis, elevation of serum total IgE levels and serum specific IgE. Sixty-seven healthy children were enrolled in control group. The related regions of CD14 gene were sequenced to identify and characterize the SNPs, and plasma TIgE and SIgE were detected by immunoassay system and uniCAP system, respectively. The frequency of genotypes and alleles between two groups, as well as the levels of IgE in different genotypes, were compared. RESULTS: CD14/-159 SNP was present in Han ethnic group population of Wenzhou. The frequency of each genotype was 57.0% (TT), 28.0% (TC), 15.0% (CC) in normal children, and 46.9% (TT), 35.4% (TC), 17.7% (CC) in atopic children. No significant difference was found in the distribution of CD14/-159 polymorphism between atopic children and healthy control (chi(2) = 1.918, P > 0.05) according to Hardy-Weinberg principle statistics. There were no significant difference in frequency of each genotype between boys and girls. No significant difference was found in the total plasma IgE levels among groups of TT genotypes [(2520 +/- 460) IU/L], TC genotypes [(2400 +/- 460) IU/L] and CC genotype [(2500 +/- 460) IU/L] (F = 0.807, P > 0.05). CONCLUSION: CD14/-159 SNP is present in Han ethnic group children in Wenzhou, and other SNP in CD14 gene was not found. TT genotype was the primary genotype in CD14/-159 SNP in the children studied. No relationship between CD14/-159 SNP and atopic disease or serum total IgE level was found.