IL-13基因和β2-AR基因单核苷酸多态性与儿童哮喘的关系  

Association of single nucleotide polymorphisms in IL-13 and β_2-adrenoreceptor genes with childhood asthma

作　　者：华丽[1] 鲍一笑[1] 吕婕[1] 董晓艳[1] 金增乾 童其田 章惠彬 

机构地区：[1]上海交通大学医学院附属新华医院儿内科,上海200092 [2]浙江省宁海县第一医院儿科,浙江宁海315600

出　　处：《临床儿科杂志》2008年第1期30-32,共3页Journal of Clinical Pediatrics

摘　　要：目的研究白介素13(IL-13)基因A2044G单核苷酸多态性(SNP)和2β-肾上腺素能受体(2β-AR)基因R16G SNP对儿童哮喘的影响,并了解两者是否起协同作用。方法应用聚合酶链反应-限制性片段长度多态性方法,分别对96名正常对照组和96名哮喘患儿组的IL-13基因A2044G SNP位点(IL-13 A2044G)和2β-AR基因R16G SNP位点(2β-AR R16G)进行检测。分析两组间基因型、等位基因频率的分布情况。以及IL-13基因A2044G SNP和2β-AR基因R16G SNP在儿童哮喘发病中有无协同效应。结果①哮喘组IL-13 A2044G G/G纯合子基因型的频率明显高于正常对照组(分别为46.9%和28.1%,OR=2.40,P=0.005)。②哮喘组2β-AR R16GA/A纯合子基因型的频率和A等位基因的频率明显高于正常对照组(分别为44.8%和28.0%,OR=2.87,P=0.011;64.6%和50.0%,OR=1.82,P=0.004)。③携带IL-13 A2044G G/G+2β-AR R16G A/A基因型组合者发生哮喘的相对危险度较仅携带单一的IL-13 A2044G G/G或2β-AR R16G A/A基因型者显著增高(分别为OR=5.33,P=0.009;OR=4.80,P=0.017)。结论IL-13 A2044G G/G或2β-AR R16G A/A纯合子基因型均与儿童哮喘的发生显著相关,且两者存在协同效应。Objectives To investigate the effect on childhood asthma of single nucleotide polymorphisms （SNPs） in IL-13 gene and β2-adrenoreceptor （β2-AR） gene, and the combined effect of the two SNPs. Methods A total of 182 children with 96 asthma subjects and 96 control subjects were recruited. PCR-RFLP was used to detect the IL-13 A2044G SNPs and the β2-AR R16G SNPs. The difference of haplotype and allele frequency between two groups were analyzed, The combined effect of these two SNPs was examined. Results （ 1 ） The frequency of IL-13 A2044G G/G genotype in the asthma group was significantly higher than that in the control group （OR = 2.40, P = 0.005）; （2） The frequencies of both β2-AR R16G A/A genotype and A allele in asthma patients were significantly higher than those in the control subjects （OR = 2.87, P = 0.011; OR = 1.82, P = 0.004）; （3） The relative risk of developing asthma in the carrier of both IL-13 A2044G G/G ＋ and β2-AR R16G A/A was significantly higher than that in the car- riers of either IL-13 A2044G G/G or β2-AR R16G A/A （OR = 5.33, P = 0.009; OR = 4.80, P = 0.017）. Conclusions Both IL-13 A2044G G/G and β2-AR R16G A/A are statistically related with the development of childhood asthma and there is the enhancing effect between them.

关 键 词：哮喘 白介素13 肾上腺素能β2受体 单核苷酸多态性 

分 类 号：R725.6[医药卫生—儿科]