The aims of this study were: (1) to find associations of asthma with single-nucleotide polymorphisms (SNPs) within theADRB2 gene: Arg16Gly, Gln27Glu, −1023 G/A, −367 T/C, −47 C/T ; (2) to define linkage disequilibrium in the gene region, basing on the analyzed SNPs; and (3) to analyze the importance ofADRB2 polymorphism for response to bronchodilator drugs in children diagnosed with bronchial asthma. We compared 113 asthmatic children and 123 healthy subjects from the Polish population. Genotyping was performed by PCR-RFLP. We found an association of the A allele of −1023A/GADRB2 polymorphism with asthma (P = 0.024). No significant associations with other SNPs were detected. Moderate linkage was found between Gln27Glu and −47C/T polymorphisms in linkage disequilibrium analysis (D’ = 0.85,r ² = 0.429, LOD = 31.97). No significant differences were found in haplotype frequencies in comparison to the control group, implicating that they are not associated with susceptibility to asthma in the analyzed population. There was no significant correlation between the analyzed SNPs of theADRB2 gene and the response to β₂-agonists. This is the first report providing suggestive evidence for association of —1023A/GADRB2 polymorphism with an increased risk of asthma. The analyzed SNPs may not play a major role in response to β₂-agonists in asthmatic children.

中文翻译：

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ADRB2 基因多态性在波兰儿童哮喘和对β（2）激动剂反应中的作用。

本研究的目的是：(1) 发现哮喘与ADRB2基因内单核苷酸多态性 (SNP) 的关联：Arg16Gly、Gln27Glu、-1023 G/A、-367 T/C、-47 C/T；(2) 根据分析的 SNP，定义基因区域的连锁不平衡；(3) 分析ADRB2多态性对诊断为支气管哮喘的儿童支气管扩张药反应的重要性。我们比较了来自波兰人群的 113 名哮喘儿童和 123 名健康受试者。通过PCR-RFLP进行基因分型。我们发现 -1023A/G ADRB2多态性的 A 等位基因与哮喘有关（P= 0.024）。未检测到与其他 SNP 的显着关联。在连锁不平衡分析中发现 Gln27Glu 和 -47C/T 多态性之间存在中等连锁（D ' = 0.85，r ² = 0.429，LOD = 31.97）。与对照组相比，单倍型频率没有发现显着差异，这意味着它们与分析人群中的哮喘易感性无关。ADRB2基因的分析 SNP与对 β ₂激动剂的反应之间没有显着相关性。这是第一份为 —1023A/G ADRB2关联提供暗示性证据的报告多态性与哮喘风险增加。所分析的 SNP 可能不会在哮喘儿童对 β ₂激动剂的反应中起主要作用。