ADRB2 R16G - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ADRB2 R16G

(ADRB2 Arg16Gly)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Wechsler ME, Lehman E, Lazarus SC, Lemanske RF Jr, Boushey HA, Deykin A, Fahy JV, Sorkness CA, Chinchilli VM, Craig TJ, DiMango E, Kraft M, Leone F, Martin RJ, Peters SP, Szefler SJ, Liu W, Israel E; National Heart, Lung, and Blood Institute's Asthma Clinical Research Network. beta-Adrenergic receptor polymorphisms and response to salmeterol. Am J Respir Crit Care Med. 2006 Mar 1;173(5):519-26. Epub 2005 Dec 1. PubMed PMID: 16322642; PubMed Central PMCID: PMC2662935.

 

Bleecker ER, Postma DS, Lawrance RM, Meyers DA, Ambrose HJ, Goldman M. Effect of ADRB2 polymorphisms on response to longacting beta2-agonist therapy: a pharmacogenetic analysis of two randomised studies. Lancet. 2007 Dec 22;370(9605):2118-25. Review. PubMed PMID: 18156033.

 

Genomes
 

Other external references
 

    PharmGKB
  • [Asthma; Heart Diseases]
    This variant has been studied in terms of asthma and its drug response and in terms of heart disease and vascular phenotypes and their drug responses.
    www.pharmgkb.org/search/annotatedGene/adrb2/
  • [Asthma]
    [budesonide; fluticasone propionate; formoterol; salmeterol]
    The ADRB2:Arg16Gly variant was not associated with asthma exacerbation in patients treated with inhaled corticosteroids plus longacting beta agonists.
    www.ncbi.nlm.nih.gov/pubmed/18156033
  • [Asthma]
    [salmeterol]
    Relative to ADRB2:16Gly/Gly patients with asthma, ADRB2:16Arg/Arg patients with asthma may have an impaired therapeutic response to salmeterol in either the absence or presence of concurrent inhaled corticosteroid use.
    www.ncbi.nlm.nih.gov/pubmed/16322642

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in