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Journal of Applied Genetics 50(3), 2009, pp. 275-281

Role of ADRB2 gene polymorphism in asthma and response to 2-agonists in Polish children

A. Szczepankiewicz, A. Breborowicz, P. Sobkowiak, L. Kramer, A. Popiel

Abstract: The aims of this study were: (1) to find associations of asthma with single-nucleotide polymorphisms (SNPs) within the ADRB2 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 of ADRB2 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/G ADRB2 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, r2 = 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 the ADRB2 gene and the response to 2-agonists. This is the first report providing suggestive evidence for association of -1023A/G ADRB2 polymorphism with an increased risk of asthma. The analyzed SNPs may not play a major role in response to 2-agonists in asthmatic children

Key words: association, asthma, 2-adrenergic receptor gene, 2-adrenoceptor gene, linkage disequilibrium, pharmacogenetics, polymorphism

Correspondence: A. Szczepankiewicz, Department of Pediatric Pulmonology, Allergy and Clinical Immunology, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland; e-mail:

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