Li H, Xiaoyan D, Quanhua L, Jie L, Yixiao B
Department of Pediatrics, Xin Hua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, China.
J Investig Allergol Clin Immunol. 2009;19(5):391-5.
Research increasingly suggests that asthma is a familial and hereditary disorder in the pathogenesis of which genetic and environmental factors play an important role.
To investigate the single and combined associations between 8 single-nucleotide polymorphism (SNP) loci in 5 genes and the development of asthma in children of Chinese Han nationality.
The study population comprised 192 children with asthma and an equal number of healthy controls. Asthma was diagnosed in accordance with American Thoracic Society criteria. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes of the SNP loci.
No statistically significant differences (P>.05) were found between the experimental and control group in genotype distribution among 6 loci (IL-13 C- 1112T, IL-13 C1923T, IL-4 C-590T, IL-4RA 175V, FcepsilonR1beta E237G, and beta2-ADR Q27E). However, significant diversity was observed among FcepsilonR1beta C-109T (P=.002) and beta2-ADR R16G (P=.000). Furthermore, the frequency of FcepsilonR1beta C-109T T/T and beta2-ADR R16G A/A in the asthma group was significantly higher than in the control group (odds ratio [OR]=1.96, P=.001; OR=2.58, P=.000, respectively). Carriers of both FcepsilonR1beta C-109T T/T and beta2-ADR R16G A/A had a more significant risk of developing asthma than those with only a single polymorphism.
The 6 loci (IL-13 C-1112T, IL-13 C1923T, IL-4 C-590T, IL-4RA 175V, FcER1B E237G and 12-ADR Q27E) make little contribution to the development of asthma in children of Chinese Han nationality. FcepsilonR1beta C-109T and beta2-ADR R16G are significantly associated with childhood asthma. FcepsilonR1beta C-109T T/T and beta2-ADR R16G A/A have a significant and combined effect on the development of asthma.
越来越多的研究表明，哮喘是一种家族性和遗传性疾病，在其发病机制中，遗传和环境因素起着重要作用。
探讨5个基因中的8个单核苷酸多态性（SNP）位点与中国汉族儿童哮喘发病之间的单一及联合关联。
研究人群包括192例哮喘儿童和数量相等的健康对照。根据美国胸科学会标准诊断哮喘。采用聚合酶链反应-限制性片段长度多态性方法检测SNP位点的基因型。
6个位点（IL-13 C-1112T、IL-13 C1923T、IL-4 C-590T、IL-4RA 175V、FcεR1β E237G和β2-肾上腺素能受体Q27E）的基因型分布在试验组和对照组之间未发现统计学显著差异（P>0.05）。然而，在FcεR1β C-109T（P = 0.002）和β2-肾上腺素能受体R16G（P = 0.000）中观察到显著差异。此外，哮喘组中FcεR1β C-109T T/T和β2-肾上腺素能受体R16G A/A的频率显著高于对照组（优势比[OR]=1.96，P = 0.001；OR = 2.58，P = 0.000）。同时携带FcεR1β C-109T T/T和β2-肾上腺素能受体R16G A/A的个体患哮喘的风险比仅具有单一多态性的个体更高。
6个位点（IL-13 C-1112T、IL-13 C1923T、IL-4 C-590T、IL-4RA 175V、FcεR1β E237G和β2-肾上腺素能受体Q27E）对中国汉族儿童哮喘发病的影响较小。FcεR1β C-109T和β2-肾上腺素能受体R16G与儿童哮喘显著相关。FcεR1β C-109T T/T和β2-肾上腺素能受体R16G A/A对哮喘发病具有显著的联合作用。
