Facultad de Ciencias de la Salud, Universidad Tecnológica de Pereira, Pereira, Colombia.
Pediatr Pulmonol. 2012 Sep;47(9):848-55. doi: 10.1002/ppul.22521. Epub 2012 Feb 10.
Asthma is a chronic and recurrent disease. Its high prevalence around the world is the result of a complex interaction between genetic and environmental factors. The genetic aspects of susceptibility, severity, and response to treatment in asthma are of great scientific interest. The purpose of the study was to establish the relationship between the Gln27Glu and Arg16Gly alleles of the β(2) -adrenergic receptor (ADRB2) gene with respect to the susceptibility to and severity of asthma, as well as the response to treatment in mestizo schoolchildren. 109 schoolchildren with asthma diagnosis and 137 asymptomatic controls were genotyped for the Arg16Gly and Gln27Glu alleles of the ADRB2 gene by minisequencing. Allele, genotype, and haplotype frequencies of the ADRB2 gene between asthmatic and non-asthmatic as well as demographic, clinical, and spirometric variables among asthmatic patients according to their genotype were compared. ADRB2 gene expression was determined by real-time quantitative PCR. No statistical differences were found in allele, genotype, and haplotype frequencies of the ADRB2 gene between cases and controls. We did not find differences between asthmatic patients classified according to their ADRB2 genotypes and haplotypes when evaluating demographic, clinical, and spirometric variables. The ADRB2 genotype and haplotype are not associated with spirometric responses or ADRB2 gene expression after administration of a β-(2) agonist plus a glucocorticoid. These results suggest that in the group of mestizo schoolchildren studied, the Arg16Gly and Gln27Glu polymorphisms are not markers of susceptibility or severity of asthma and do not affect ADRB2 gene expression during the rescue therapy.
哮喘是一种慢性和复发性疾病。其在全球的高发病率是遗传和环境因素复杂相互作用的结果。哮喘易感性、严重程度和治疗反应的遗传方面具有重要的科学意义。本研究的目的是建立β(2)-肾上腺素能受体(ADRB2)基因的Gln27Glu 和 Arg16Gly 等位基因与哮喘易感性和严重程度以及中美洲裔学龄儿童治疗反应之间的关系。通过微测序对 109 例哮喘诊断患儿和 137 例无症状对照者进行 ADRB2 基因 Arg16Gly 和 Gln27Glu 等位基因的基因分型。比较哮喘组和非哮喘组之间 ADRB2 基因的等位基因、基因型和单倍型频率以及哮喘患者根据其基因型的人口统计学、临床和肺功能变量。通过实时定量 PCR 确定 ADRB2 基因的表达。病例组和对照组之间 ADRB2 基因的等位基因、基因型和单倍型频率无统计学差异。根据 ADRB2 基因型对哮喘患者进行分类时，我们未发现其在人口统计学、临床和肺功能变量方面存在差异。ADRB2 基因型和单倍型与β-(2)-激动剂加糖皮质激素给药后的肺功能反应或 ADRB2 基因表达无关。这些结果表明，在所研究的中美洲裔学龄儿童组中，Arg16Gly 和 Gln27Glu 多态性不是哮喘易感性或严重程度的标志物，也不会影响抢救治疗期间 ADRB2 基因的表达。
