5岁以下喘息患儿ADRβ2、ORMDL3基因SNP与API的相关性研究

目的 探讨肾上腺素能受体β2（ADRβ2）、血清类黏蛋白1样蛋白3（ORMDL3）基因单核苷酸多态性（SNP）与哮喘预测指数（API）阳性婴幼儿喘息的相关性。方法 将124例5岁以下喘息患儿分为API阳性组（66例）与API阴性组（58例）。选取儿童哮喘易感基因 SNP位点：ADRβ2 R16G、ORMDL3 rs12603332,采用 TaqMan 探针法对2组患儿进行基因分型,分别比较上述SNP位点在2组间的分布差异。结果 ORMDL3 rs12603332基因型在API阳性组与API阴性组之间的分布差异无统计学意义（² = 2.524,P > 0.05）。ADRβ2 R16G基因型在API阳性组以AA占比最高,AG次之,GG最少;在API阴性组以AG占比最高,GG次之,AA最少;API阳性组AA占比高于API阴性组（² = 25.358,P < 0.05）。ADRβ2基因型AG和GG是API阳性的保护因素,与AA比较,AG、GG是API阳性的概率分别为18.8%和6.4%。结论 ADRβ2 R16G基因型分布在API 阳性与阴性的5岁以下喘息患儿中存在差异,携带基因型AA 的喘息患儿或更具进展为哮喘的危险性。ADRβ2或可联合 API 作为预测儿童哮喘的临床指标。ORMDL3 rs12603332基因型或与API预测哮喘发生无一致性。

Correlation between single nucleotide polymorphism of ADRβ2, ORMDL3 and asthma predictive index in wheezing children under 5 years old

Objective To investigate the correlation between the single nucleotide polymorphism （SNP） of Adrenergic receptor beta 2（ADRβ2） gene, Orosomucoid1-like protein 3（ORMDL3） gene and positive asthma predictive index （API） in wheezing children. Methods One hundred and twenty four wheezing children aged under 5 years old were divided into the positive （n =66） and negative API groups （n = 58）.The SNP loci of ADRβ2 R16G and ORMDL3 rs12603332 of childhood asthma susceptibility genes were selected. Genotyping was performed between two groups by using TaqMan probe assay. The distribution differences of these SNP loci were compared between two groups. Results There was no significant difference in the genotypes of ORMDL3 rs12603332 between the positive and negative API groups（²= 2.524,P > 0.05）. In the positive API group, the proportion of AA was the highest in ADRβ2 R16G genotype, followed by AG and GG. In the negative API group, the proportion of AG was the highest, followed by GG and AA. The proportion of AA in the positive API group was significantly higher than that in the negative API group（²= 25.358,P < 0.05）. AG and GG genotypes of ADRβ2 was protective factors of positive API. Compared with AA, AG and GG were 18.8% and 6.4% of the probability of positive API. Conclusions The genotypes of ADRβ2 R16G between positive and negative API groups are different in wheezing children under 5 years old, and the wheezing children with AA genotype may have a higher risk of developing asthma. ADRβ2 may be combined with API as a clinical indicator for the diagnosis of childhood asthma.There is no consistency between ORMDL3 rs12603332 and API in predicting asthma.