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目的:检测染色体1q12区段IL6R基因多态性与儿童发生支气管哮喘易感性的关系。方法:150名支气管哮喘患儿为支气管哮喘组。150名健康儿童为对照组。采用质谱单核苷酸多态性(SNP)技术,对两组儿童的IL6R基因进行分析。结果:两组IL6基因位点的分布符合Hardy-Weinburg平衡定律。两组IL6R基因rs4845374位点的基因型与等位基因相比较,无明显差异(X2值分别为3.442和3.701;P值分别为0.179和0.088)。两组IL6R基因rs2228145位点的基因型与等位基因相比较,差异均有统计学意义(X2值分别为6.635和9.200;P值分别为0.036和0.003)。IL6R基因rs2228145位点基因型的变异等位基因T、C与支气管哮喘存在密切联系,CC、TT型出现支气管哮喘的风险均比CT型高。结论:IL6R基因rs4845374位点与儿童支气管哮喘无相关性,而rs2228145位点多态性与儿童支气管哮喘有相关性。
Objective: To detect the association of IL6R gene polymorphism in chromosome 1q12 with susceptibility to bronchial asthma in children. Methods: 150 children with bronchial asthma were bronchial asthma group. 150 healthy children as the control group. The IL6R gene in two groups of children was analyzed by mass spectrometry single nucleotide polymorphism (SNP). RESULTS: The distribution of IL6 gene locus in both groups was in accordance with the Hardy-Weinburg equilibrium law. There was no significant difference between genotypes of rs4845374 of IL6R gene in the two groups and alleles (X2 values were 3.442 and 3.701 respectively; P values were 0.179 and 0.088, respectively). The genotypes of rs2228145 of IL6R gene in two groups were significantly different from those in allele (X2 values were 6.635 and 9.200 respectively; P values were 0.036 and 0.003, respectively). The allele T and C of rs2228145 genotype of IL6R gene are closely related to bronchial asthma. The risk of bronchial asthma in CC and TT genotypes is higher than that of CT genotype. Conclusion: rs4845374 locus of IL6R gene has no correlation with children bronchial asthma, while rs2228145 locus polymorphism has correlation with children bronchial asthma.