ADRB2 G16R - GET-Evidence

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ADRB2 G16R

(ADRB2 Gly16Arg)


You are viewing an old version of this page that was saved on December 6, 2010 at 8:23pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • A @ chr5:148206440: 41.3% (4445/10758) in EVS
  • A @ chr5:148186632: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 41.3% (4445/10758)

Publications
 

Green SA, Turki J, Innis M, Liggett SB. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry. 1994 Aug 16;33(32):9414-9. Erratum in: Biochemistry 1994 Nov 29;33(47):14368. PubMed PMID: 7915137.

 

Dishy V, Sofowora GG, Xie HG, Kim RB, Byrne DW, Stein CM, Wood AJ. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med. 2001 Oct 4;345(14):1030-5. PubMed PMID: 11586955.

 

Israel E, Chinchilli VM, Ford JG, Boushey HA, Cherniack R, Craig TJ, Deykin A, Fagan JK, Fahy JV, Fish J, Kraft M, Kunselman SJ, Lazarus SC, Lemanske RF Jr, Liggett SB, Martin RJ, Mitra N, Peters SP, Silverman E, Sorkness CA, Szefler SJ, Wechsler ME, Weiss ST, Drazen JM; National Heart, Lung, and Blood Institute's Asthma Clinical Research Network. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet. 2004 Oct 23-29;364(9444):1505-12. PubMed PMID: 15500895.

 

Pacanowski MA, Gong Y, Cooper-Dehoff RM, Schork NJ, Shriver MD, Langaee TY, Pepine CJ, Johnson JA; INVEST Investigators. beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension. Clin Pharmacol Ther. 2008 Dec;84(6):715-21. Epub 2008 Jul 9. PubMed PMID: 18615004; PubMed Central PMCID: PMC2675574.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr5:148206440

 

Added in this revision:

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr5:148206440

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr5:148206440

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr5:148206440

 

NA07022

 

NA12156

 

NA12878

 

NA18517

 

NA18555

 

NA19129

 

NA19240

 

snp-2

 

snp-26

 

snp-28

 

snp-29

 

snp-3

 

snp-31

 

snp-32

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1042713
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Coronary Artery Disease; Death; Hypertension; Myocardial Infarction; Stroke]
    [atenolol; verapamil]
    None of the ADRB2 haplotypes tested that contained this SNP were associated with differential primary outcome (i.e., the first incidence of death, nonfatal myocardial infarction, or nonfatal stroke) in hypertensive patients with coronary artery disease.
    www.ncbi.nlm.nih.gov/pubmed/18615004
  • [Asthma]
    [salbutamol]
    Subjects who are homozygous for Arg16 and who were on regular albuterol treatment were reported to have lower morning peak flows compared with those who were not on regular albuterol treatment, suggesting that regular albuterol therapy may not be appropriate for Arg16 homozygous subjects.
    www.ncbi.nlm.nih.gov/pubmed/15500895
  • [Stress]
    [isoproterenol]
    In healthy subjects, the Arg16 variant was associated with enhanced isoproterenol-mediated desensitization of the vasculature and enhanced isoproterenol induced-venodilation, suggesting that it may be an important determinant of the vascular response to stress.
    www.ncbi.nlm.nih.gov/pubmed/11586955
  • Gly16 receptor had an enhanced agonist-promoted downregulation relative to Arg16 in in vitro studies using chinese hamster fibroblasts with expressed ADRB2.
    www.ncbi.nlm.nih.gov/pubmed/7915137
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (161 hits -- see all)
  • JACC -- Sehnert et al. 0 (2008): j.jacc.2008.05.022v1 Table BL6
    Table 6 Results of Genetic Studies in Beta-Blocker–Treated Heart ... ADRB2 G16R. ADRB2 Q27E. ADRA2C Del322-325. ADRB1 49/389 SR, SG, GR. ADRB2 16/27 RQ, GE, GQ ...
    content.onlinejacc.org/cgi/content-nw/full/...
  • Lack of Association Between Adrenergic Receptor Genotypes and ...
    Still not a subscriber to JACC Imaging or JACC Interventions? ... ADRB2 G16R. ADRB2 Q27E. ADRA2C Del322-325. ADRB1 49/389 SR, SG, GR. ADRB2 16/27 RQ, GE, GQ ...
    content.onlinejacc.org/cgi/content/full/...
  • OIII-B-1
    G16R, Q27E, C523A. Logistic regression was performed to model. the number of drugs taken ... ADRB2 haplotype may have a significant effect on risk for heart ...
    info.medicine.ufl.edu/cardio/INVEST/...
  • GeneCanvas
    The nomenclature system used for polymorphisms is the following : Polymorphisms in the 5' ... ADRB2/G16R. ADRB2/Q27E. ADRB2/T-20C. ADRB2/T-47C (C19R of leader cistron) ...
    genecanvas.idf.inserm.fr/infusions/.../PolymorphismsList.php
  • Haplotype Analysis of the 2 Adrenergic Receptor Gene and Risk ...
    2 adrenergic receptor (ADRB2), in particular G16R, Q27E, and T164I, have ... American men, we evaluated the G16R, Q27E, and T164I polymorphisms among 523 individuals who ...
    www.genetics.org/cgi/reprint/169/3/1583.pdf
  • Haplotype Analysis of the β2 Adrenergic Receptor Gene and ...
    THE β2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... of polymorphisms in ADRB2 have been identified; in particular, G16R, Q27E, and T164I ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1449541
  • Haplotype Analysis of the {beta}2 Adrenergic Receptor Gene ...
    THE ß2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... of polymorphisms in ADRB2 have been identified; in particular, G16R, Q27E, and T164I ...
    www.genetics.org/cgi/content/full/169/3/1583
  • CARDIODX™ - Publications
    CardioDx is a cardiovascular genomic diagnostics company that provides cardiologists with ... Genotypes and haplotypes of ADRB1, ADRB2, and ADRA2C did not significantly affect ...
    www.cardiodx.com/news-and-resources/publications-1
  • Influence of β2-adrenergic receptor (<i>ADRB2</i>) haplotypes ...
    Influence of 2-adrenergic receptor (ADRB2) haplotypes on obesity-related traits and ... Three polymorphisms were investigated, p.G16R (c.46G>A), p.E27Q (c. ...
    www.ashg.org/genetics/abstracts/abs06/f1715.htm
  • Lack of association between genotypes or haplotypes of ADRB2 ...
    Our objective was to investigate ADRB2 variants for association with juvenile ... of glycine to arginine at position 16 (G16R), and of glutamine to glutamic acid at ...
    www.ashg.org/genetics/ashg07s/f20130.htm

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

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