β2-adrenergic receptor genetics

The beta(2)-adrenergic receptor (beta(2)AR) is a positional candidate gene for asthma located on 5q31-33. There are 17 known polymorphisms in this gene, A determination of the functional significance of these polymorphisms is complicated by the lack of haplotypic assessment in most functional assays. The beta(2)AR gene is not an asthma-susceptibility gene but appears to be a minor determinant for lung function. The gene also has clear pharmacogenetic effects. Further work is needed to fully define the effects of haplotype on function, disease phenotype and pharmacogenetic effect.