ADRB2 G16R - GET-Evidence

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ADRB2 G16R

(ADRB2 Gly16Arg)


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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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
 

Genomes
 

NA12878

 

NA18517

 

Added in this revision:

NA18555

 

snp-2

 

Other external references
 

    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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