ADRB1 G389R - 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:

ADRB1 G389R

(ADRB1 Gly389Arg)


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

  • C @ chr10:115805056: 68.1% (6931/10184) in EVS
  • Frequency shown in summary reports: 68.1% (6931/10184)

Publications
 

Geese WJ, Achanzar W, Rubin C, Hariharan N, Cheng P, Tomlinson L, Ordway N, Dracopoli NC, Delmonte T, Hui L, Krishnan B, Cosma G, Ranade K. Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. Pharmacogenet Genomics. 2008 Oct;18(10):903-10. PubMed PMID: 18794727.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr10:115805056

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr10:115805056

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr10:115805056

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr10:115805056

 

 

hu34D5B9 - hu34D5B9 exome
het C @ chr10:115805056

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr10:115805056

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr10:115805056

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr10:115805056

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr10:115805056

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr10:115805056

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr10:115805056

 

NA19240

 

Other external references
 

    dbSNP
  • rs1801253
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Diabetes Mellitus; Edema; Hyperlipidemias]
    [muraglitazar]
    The G/G (Gly/Gly) genotype of this SNP was associated with reduced risk of edema resulting from treatment with muraglitazar (BMS-298585) relative to the C/C (Arg/Arg) genotype. The test population consisted of patients with diabetes or hyperlipidemia.
    www.ncbi.nlm.nih.gov/pubmed/18794727

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in