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Original Article


Single-Nucleotide Polymorphisms in Genes Predisposing to Asthma in Children of Chinese Han Nationality


H Li, D Xiaoyan, L Quanhua, L Jie, B Yixiao

Department of Pediatrics, Xin Hua Hospital Affi liated to Shanghai Jiaotong University School of Medicine, China

J Investig Allergol Clin Immunol 2009; Vol. 19(5): 391-395



Background: Research increasingly suggests that asthma is a familial and hereditary disorder in the pathogenesis of which genetic and environmental factors play an important role.

Objective: 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.

Methods: 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 todetect the genotypes of the SNP loci.

Results: 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 I75V, FcεR1ß E237G, and ß2-ADR Q27E). However, significant diversity was observed among FcεR1ß C−109T (P=.002) and ß2-ADR R16G (P=.000). Furthermore, the frequency of FcεR1ß C−109T T/T and ß2- 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 FcεR1ß C−109T T/T and ß2-ADR R16G A/A had a more significant risk of developing asthma than those
with only a single polymorphism.

Conclusion: The 6 loci (IL-13 C–1112T, IL-13 C1923T, IL-4 C–590T, IL-4RA I75V, FcεR1ß E237G and ß2-ADR Q27E) make little contribution to the development of asthma in children of Chinese Han nationality. FcεR1ß C–109T and ß2-ADR R16G are significantly associated with childhood asthma. FcεR1ß C–109T T/T and ß2-ADR R16G A/A have a significant and combined effect on the development of asthma.

Key words: Asthma. Single nucleotide polymorphism. IL-13. IL-4. IL-4 receptor. Fc receptor. Adrenoreceptor.