Zheng Shasha, Zhu Xiaoping, Li Bo, Yang Jun, Cui Yuxia, Lu Gen
Department of Pediatrics, Children's Hospital, Guiyang Maternal and Child Healthcare Hospital, Guiyang 550004, China.
Department of Pediatrics, Affiliated Hospital, Guiyang Medical College, Guiyang 550004, China. Email:
Zhonghua Yi Xue Za Zhi. 2014 Sep 30;94(36):2822-7.
To explore the correlation of gene polymorphism of interleukin 4 receptor alpha chain (IL-4Rα) and total serum IgE levels in children of bronchial asthma in Guiyang area.
A total of 160 asthmatic children at Affiliated Hospital, Guiyang Medical College from August 2010 to February 2011 were selected as asthma group. There were 96 males and 64 females with an average age of (6.9 ± 3.3) years. During the same period, 143 healthy children from outpatient physical examination center of this hospital were chosen as control group. There were 75 males and 68 females with an average age of (4.9 ± 3.9) years. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific polymerase chain reaction (AS-PCR) were used to determine the polymorphisms of Q576R on exon 12 and I75V on exon 5 of IL-4Rα in both groups. The total serum IgE levels were determined by enzyme-linked immune sorbent assay (ELISA). Comparisons of two groups were made for genotype and allele frequency, serum total IgE and different genotypes, different groups of total serum IgE levels.
Three genotypes of AA, AG and GG existed on Q576R and I75V loci between two groups. The genotypic frequencies of two loci had significant differences in two groups (χ(2) = 30.972, 16.776, both P < 0.001). The subjects with variant allele on Q576R and I75V loci had higher risks for asthma than those without variant allele (χ(2) = 33.236, 13.845, both P < 0.001). The total serum levels of IgE in asthma group were higher than those in control group ((312 ± 297) vs (61 ± 48) U/ml, t = 9.959, P < 0.001). However, these three genotypes of two loci showed no significant inter-group difference (all P > 0.05). In mutation allele carriers and non-carriers of Q576R locus, total IgE levels showed no significant difference (t = -0.028, 1.279; P = 0.978, 0.203). Differences in total IgE levels between I75V polymorphic variant allele carriers and non-carriers were also not statistically significant in control group (t = -0.763, P = 0.447). However, in asthma group, total IgE levels of I75V polymorphic variant allele carriers were significantly higher than those of non-carriers (t = -2.112, P = 0.036).
The 576 and 75 loci of IL-4Rα are important candidate genes of asthmatic children in Guiyang area. And the serum total IgE levels of variant allele G at 75 locus in IL-4Rα are higher than those without it.
探讨贵阳地区支气管哮喘患儿白细胞介素4受体α链（IL-4Rα）基因多态性与血清总IgE水平的相关性。
选取2010年8月至2011年2月贵阳医学院附属医院的160例哮喘患儿作为哮喘组，其中男96例，女64例，平均年龄（6.9±3.3）岁。同期选取该院门诊体检中心的143例健康儿童作为对照组，其中男75例，女68例，平均年龄（4.9±3.9）岁。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和等位基因特异性聚合酶链反应（AS-PCR）检测两组IL-4Rα基因第12外显子Q576R和第5外显子I75V的多态性。采用酶联免疫吸附试验（ELISA）检测血清总IgE水平。比较两组基因型和等位基因频率、血清总IgE与不同基因型、不同组血清总IgE水平。
两组Q576R和I75V位点均存在AA、AG和GG三种基因型。两组两个位点的基因型频率差异有统计学意义（χ(2)=30.972，16.776，P均<0.001）。Q576R和I75V位点有变异等位基因的受试者患哮喘的风险高于无变异等位基因者（χ(2)=33.236，13.845，P均<0.001）。哮喘组血清总IgE水平高于对照组（(312±297) vs (61±48) U/ml，t=9.959，P<0.001）。但两个位点的这三种基因型组间差异无统计学意义（P均>0.05）。Q576R位点突变等位基因携带者与非携带者的总IgE水平差异无统计学意义（t=-0.028，1.279；P=0.978，0.203）。对照组I75V多态性变异等位基因携带者与非携带者的总IgE水平差异也无统计学意义（t=-0.763，P=0.447）。但在哮喘组，I75V多态性变异等位基因携带者的总IgE水平显著高于非携带者（t=-2.112，P=0.036）。
IL-4Rα基因的576和75位点是贵阳地区哮喘患儿的重要候选基因。IL-4Rα基因75位点变异等位基因G的血清总IgE水平高于无该等位基因者。
