Genetic Variation of the β2-Adrenoceptor

  title={Genetic Variation of the $\beta$2-Adrenoceptor},
  author={D Robin Taylor and Martin Alexander Kennedy},
  journal={American Journal of Pharmacogenomics},
  • D. TaylorM. Kennedy
  • Published 1 September 2001
  • Biology, Medicine
  • American Journal of Pharmacogenomics
Asthma is a polygenic disease for which no clear genotype-phenotype relationships have emerged. In contrast, although not associated with the diagnosis of asthma per se, variant forms of the β2-adrenoceptor (β2-AR) gene (ADRB2) display functional effects that may be clinically relevant. Single nucleotide polymorphisms (SNPs) of ADBR2 are common and result in amino acid substitutions at positions 16, 27, and 164 of the receptor as well as position 19 of its 5′ upstream peptide. These SNPs… 

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Polymorphisms of the β2-Adrenergic Receptor and Asthma

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Association of β2-Adrenoreceptor Variants with Bronchial Hyperresponsiveness

A population-based association study focusing on BHR as a qualitative trait and omitting other asthma-related phenotypes is performed, finding no individual polymorphism was associated with BHR, but the Gly16/Gln27/Th164 hapl...

Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing.

Genotyped 269 children who were participants in a longitudinal study of asthma and marked linkage disequilibrium between the beta2AR-27 polymorphism and response to albuterol was found, which may explain some of the variability in response to therapeutic doses of al buterol in children.

Association of persistent bronchial hyperresponsiveness with beta2-adrenoceptor (ADRB2) haplotypes. A population study.

It is observed that the ADRB2 haplotype with a Gly at position 16 and a Gln at position 27 is associated withBronchial hyperresponsiveness in a large, highly homogeneous sample of individuals, suggesting that AD RB2 gene can confer genetic susceptibility to BHR, rather than having only a disease-modifying effect in asthma.

The glutamine 27 beta2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families.

Polymorphism of the beta2-adrenoceptor and the response to long-term beta2-agonist therapy in asthma.

There was no association between genotype and change in overall asthma control during regular beta2-agonist treatment, and the deleterious response to regular inhaledBeta2-receptor treatment was not related to beta-adrenoceptor polymorphism.

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H homozygous Arg-16 patients are susceptible to clinically important increases in asthma exacerbations during chronic dosing with the short acting β2 agonist salbutamol.

beta(2)-adrenergic receptor Arg16/Arg16 genotype is associated with reduced lung function, but not with asthma, in the Hutterites.

This study demonstrates that the observed linkage to asthma in the 5q23-31 region is unrelated to variation in the beta(2)AR gene, and is the first study to suggest that thebeta( 2)AR Arg16Gly polymorphism influences either lung growth or the rate of decline of lung function with age.

Polymorphism of the β2-Adrenergic Receptor Gene and Desensitization in Human Airway Smooth Muscle

Two common polymorphic forms of the β2-adrenergic receptor: the Gly16 and Glu27 alleles, are examined on acute and long-term β2AR desensitization in human airway smooth muscle (HASM) cells.

Association of glutamine 27 polymorphism of β2 adrenoceptor with reported childhood asthma: population based study

Two common polymorphisms in the β adrenoceptor at amino acids 16 and 27 are associated with raised IgE concentrations in families with a history of asthma, and with increased reactivity of the airways in people with asthma.