散发及家族群发支气管哮喘患者β2-肾上腺素能受体基因多态性分析

The gene polymorphism analysis of β2-adrenergic receptor in the patients with sporadic and familial bronchial asthma

目的探讨β2-肾上腺素能受体基因多态性与散发性及家族群发性支气管哮喘的相关性。方法选取浙江籍散发性支气管哮喘84例为散发性支气管哮喘组,家族群发性支气管哮喘84例为家族群发性支气管哮喘组,健康体检者84例为对照组,比较三组患者的β2-肾上腺素能受体16位和27位基因等位基因频率。结果三组患者β2-肾上腺素能受体基因16位型为Arg/Arg的比例相近,差异无统计学意义(χ2=2.27,P>0.05)。家族群发性支气管哮喘组患者的Gly/Arg基因型频率低于对照组和散发性支气管哮喘组(χ2分别=16.13、6.22,P均<0.05),散发性支气管哮喘组患者低于对照组,但差异无统计学意义(χ2=2.43,P>0.05)。家族群发性支气管哮喘组和散发性支气管哮喘组的Gly/Gly基因型频率高于对照组(χ2分别=18.76、5.72,P均<0.05),而散发性支气管哮喘组与家族群发性支气管哮喘组该基因型频率比较,差异无统计学意义(χ2=3.04,P>0.05)。家族群发性支气管哮喘组和散发性支气管哮喘组的Arg基因型频率低于对照组,Gly基因型频率高于对照组,差异均有统计学意义(χ2分别=9.73、3.94;9.73、3.94,P均<0.05),而散发性支气管哮喘组与家族群发性支气管哮喘组之间比较,差异均无统计学意义(χ2=1.32、1.32,P均<0.05)。β2-肾上腺素能受体基因27位三种Gln/Gln、Gln/Glu和Glu/Glu在三组中出现的频率相当,差异无统计学意义(χ2分别=3.12、3.22、3.53,P均<0.05)。对该基因27位等位基因频率统计可知,三组患者的Glu、Gln频率均相当,差异无统计学意义(χ2分别=2.11、2.30,P均<0.05)。结论哮喘患者的β2-肾上腺素能受体基因具有一定的多态性,且16位Gly/Arg、Gly/Gly、Gly基因频率明显异常,可作为临床诊断哮喘发生,尤其是家族群发性哮喘发生的重要影响因子,但27位基因多态性的影响还不明确。

Objective To explore the correlation between the β2-adrenergic receptor gene polymorphism and sporadic and familial bronchial asthma. Methods A total of 84 cases of sporadic bronchial asthma selected from Zhejiang province were enrolled sporadic bronchial asthma group, 84 cases of familial bronchial asthma in familial bronchial asthma group and 84 cases of healthy in control group. The gene frequency of β2- adrenergic receptor 16 and 27 alleles among three groups were compared. Results The Arg/Arg rates of β2- adrenergic receptor 16 alleles among three groups was not sta-tistically significant （χ2=2.27, P〉0.05）. The Gly/Arg genotype frequency of familial bronchial asthma group was signifi-cantly lower than that of the control group and sporadic bronchial asthma group （χ2=16.13,6.22,P〈0.05） while the differ-ence between the sporadic bronchial asthma group and control group was not statistically significant （χ2=2.43,P〉0.05）. The Gly/ Gly genotype frequency of familial bronchial asthma group was significantly higher than that of the control group （χ2=18.76,5.72,P〈0.05） while was not statistically differ from the sporadic bronchial asthma group （χ2=3.04,P〉0.05）. Arg and Gly genotype frequency of familial bronchial asthma group and the sporadic bronchial asthma group were signifi-cantly differ from the control group（χ2=9.73,3.94,9.73,3.94,P〈0.05）. The differences of Arg and Gly genotype frequency between sporadic bronchial asthma group and family bronchial asthma group was not statistically significant（χ2=1.32,1.32, P〉0.05）. The Glu/Gln, Gln/Glu and Glu/Glu in the three groups showed that there was no statistical dif-ference （χ2=3.12,3.22,3.53,P〉0.05）. There was no＆nbsp;significant difference of Glu, Gln among three groups （χ2=2.11,2.30,P〉0.05）. Conclusion Theβ2-adrenergic receptor gene is polymorphic, and the 16 alleles of Gly/Arg, Gly/Gly, Gly gene frequency is significantly abnormal, which can be used as an important factor in the clinical diagnosis of asthma, especially in the family bronchial asthma. It is ambiguity that the effect of 27 alleles gene polymorphism on bronchial asthma.