ADRB1 S49G - GET-Evidence

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

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Curation:
Currentness:

ADRB1 S49G

(ADRB1 Ser49Gly)


Short summary

Better outcome from treatment with atenolol vs. verapamil.

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

  • G @ chr10:115804036: 13.7% (1442/10530) in EVS
  • G @ chr10:115794025: 4.5% (1/22) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1442/10530)

Publications
 

Johnson JA, Zineh I, Puckett BJ, McGorray SP, Yarandi HN, Pauly DF. Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol. Clin Pharmacol Ther. 2003 Jul;74(1):44-52. PubMed PMID: 12844134.

 

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
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr10:115804036

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr10:115804036

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr10:115804036

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr10:115804036

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr10:115794026

 

Other external references
 

    dbSNP
  • rs1801252
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Heart Diseases]
    This variant results in increased agonist-promoted desensitization and has been well studied for impact on cardiovascular disease and drug response.
    www.pharmgkb.org/search/annotatedGene/adrb1/
  • [Death]
    [atenolol; verapamil]
    The haplotype defined by the A allele of this SNP and the C allele of rs1801253 is associated with increased mortality risk in hypertensive patients with documented coronary artery disease. This increased risk was observed in patients with one or two copies of the AC haplotype. Significant association of the AC haplotype with mortality risk manifested in patients who were treated with the Ca++ channel blocker verapamil, but not in patients treated with the beta-blocker atenolol. Thus, individuals with the AC haplotype may experience better outcomes from treatment with atenolol vs. treatment with verapamil. No association was observed for nonfatal myocardial infarction or nonfatal stroke.
    www.ncbi.nlm.nih.gov/pubmed/18615004
  • [Hypertension]
    [metoprolol]
    Data from a study on forty hypertensive men and women aged 35 to 65 years suggest that this SNP together with rs1801253 in the ADRB1 gene are important determinants of antihypertensive response to metoprolol.
    www.ncbi.nlm.nih.gov/pubmed/12844134

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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