ADRB2基因多态性与0～5岁儿童喘息相关研究

Study on the correlation between polymorphism of ADRB2 gene and wheezing in 0-5-year-old children

目的:探讨ADRB2基因rs1042713位点在0～5岁儿童的分布特征、位点多态性与临床易感性的关系。方法:病例组0～5岁喘息儿童115例,对照组118例纳入研究,留取其口腔上皮细胞提取DNA,用实时荧光定量PCR法对ADRB2基因rs1042713位点SNP进行基因分型、统计,分析位点多态性与临床易感性。结果:基因多态性特征与国内其他地区、日本等人群相近。病例组与对照组等位基因之间、基因型之间的分布差异无统计学意义(P>0.05),而喘息发作严重程度在基因型的分布差异具有统计学意义(P<0.05)。结论:该地区病例ADRB2基因rs1042713位点多态性与0～5岁儿童喘息性疾病的易感性不相关,该位点的改变非喘息性疾病的始动因素;但与病情的发作严重程度相关,纯合子G/G基因型可能是重症病例的危险易感因素。

Objective:To explore the distribution characteristics and polymorphism of rs1042713 locus of ADRB2 gene and clinical susceptibility of wheezing in 0-5-year-old children.Methods:A total of 115 children with wheezing aged 0-5 years old were selected as case group,while 118 children were selected as study group,the oral epithelial cells were obtained to Abstract DNA,real-time fluorescent quantitative PCR was used for genotyping and statistical analysis of single nucleotide polymorphism(SNP) in rs1042713 locus of ADRB2 gene,the relationship between polymorphism of locus and susceptibility of wheezing was analyzed.Results:The characteristics of gene polymorphism was similar to those in the other regions in China and in Japan.There was no statistically significant difference in the distributions of allele and genotype between case group and control group(P>0.05),but there was statistically significant difference in the distribution of genotype among the children with different severities of wheezing(P<0.05).Conclusion:There was no correlation between polymorphism of rs1042713 locus of ADRB2 gene with clinical susceptibility of wheezing in 0-5-year-old children in the region,the change of the locus is not the initial factor of wheezing in children,but it is correlated with the degree of severity of the disease,homozygote G/G genotype may be one of the susceptible factors of severe wheezing in children.