上海市哮喘儿童与β_2-肾上腺素能受体基因多态性的关系

Relationship of Genetic Polymorphisms of β_2-Adrenergic Receptor and Asthma in Children in Shanghai Area

目的探讨β2-肾上腺素能受体(β2AR)基因多态性与上海市儿童哮喘的关系。方法2005年11月-2007年1月本院儿科住院及门诊哮喘患儿57例。男34例,女23例;年龄(4.98±2.78)岁。根据哮喘发作程度分为间歇和轻度发作组(36例)、中重度发作组(21例)。同期门诊健康体检儿童62例为健康对照组。男30例,女32例;年龄(5.30±3.40)岁。抽取各组儿童清晨空腹肘静脉血3mL。应用序列特异引物PCR(SSP-PCR)技术,对哮喘组和健康对照组儿童β2AR精氨酸(Arg)16甘氨酸(Gly)和谷氨酰胺(Gln)27谷氨酸(Glu)位点基因多态性进行分析,采用化学发光免疫方法测定各组儿童血清总IgE水平。应用SPSS10.0软件进行统计学分析。结果1)哮喘和健康对照组儿童Arg16Gly位点等位基因、基因型频率(χ2=0.449,1.396Pa>0.05)及Gln27Glu位点等位基因、基因型频率(χ2=1.315,1.544Pa>0.05)比较差异均无显著性意义。2)16位点Gly16纯合子在中重度哮喘中的分布显著高于间歇和轻度发作组(χ2=7.049P<0.05);27位点各基因型在间歇和轻度发作组与中重度发作组中的分布比较无显著差异(χ2=1.265P>0.05)。3)哮喘组各位点基因型血清总IgE水平比较差异无显著性意义(F=0.105,0.10Pa>0.05)。结论β2ARGly16纯合子基因型与上海市儿童哮喘的严重程度相关,可能是严重哮喘的重要遗传因素。

Objective To explore the relationship of genetic Polymorphisms of β2-adrenergic receptor （ β2AR） and asthmat in children in Shanghai area. Methods Fifty - seven asthmatic patients hospitalized or in outpatient clinic were selected from Nov. 2005 to Jan. 2007. Among them, there were 34 males and 23 females, mean age was（4.98 ± 2.78 ） years. According to the severity of asthma, the patients were divided into mild intermittent and persistent group （36 patients）, moderate - severe group （21 patients）. Sixty - two healthy children had also been recruited,30 males and 32 females, mean age was （5.30 ± 3.40 ） years. The β2 AR genetic polymorphism was assessed by sequence specific primers - polymerase chain reaction （SSP - PCR） technique in 57 asthmatic children and 62 healthy Children. Serum IgE concentration was measured by chemoluminescence immunoassay. Results 1. There were no significant differences in the allele and genotype frequency of Arg16Gly（χ^2 = 0. 449,1. 396 Pa 〉 0.05） and Gln27Glu（χ^2 = 1. 315,1. 544 Pa 〉 0.05） between asthma and control group. 2. The frequency of Gly16Gly in moderate - severe persistent group was significantly higher than that in mild intermittent and persistent group （χ^2= 7. 049 P 〈 0.05 ）. There was no significant differences of the frequency of 27 locus genoeype in asthma and mild intermittent and persistent group （χ^2 = 1. 265 P 〉 0.05 ）. 3. There was no significant differences of the concentration of serum IgE in all genotypes in asthma group （ F = 0. 105,0.10 Pa 〉 0.05 ）. Conclusions The β2 AR Gly16Gly genetic polymorphism was correlated with asthma severity and may be one of susceptibility genes in severe asthmatic children in Shanghai area.