{{Rsnum
|rsid=1801253
|Gene=ADRB1
|Chromosome=10
|position=114045297
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.2975
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ADRB1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 50.8 | 36.9 | 12.3
| HCB | 54.8 | 40.5 | 4.8
| JPT | 74.4 | 20.9 | 4.7
| YRI | 31.7 | 52.4 | 15.9
| ASW | 0.0 | 0.0 | 0.0
| CHB | 54.8 | 40.5 | 4.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
Also known as Arg389, variation at this SNP, located in the [[ADRB1]] gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of [[beta blocker]] drugs, and so how well the drug works to help lower a patients [[high blood pressure]] depends in part on this SNP. The status of this SNP is often reported together with the status of SNP [[rs1801252]], which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The [[rs1801253]](G) allele encodes the glycine.

One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker [[metoprolol]] in lowering blood pressure (BP) can be summarized for patients with the corresponding genotypes as follows {{PMID|12844134}}:

*[[rs1801252(A;A)]] and [[rs1801253(C;C)]] carriers: 15 point drop in BP
*[[rs1801252(A;G)]] and [[rs1801253(C;C)]] carriers:  9 point drop in BP
*[[rs1801252(A;A)]] and [[rs1801253(C;G)]] carriers:  6 point drop in BP
*[[rs1801252(A;G)]] and [[rs1801253(C;G)]] carriers: <1 point drop in BP

This SNP may also determine whether the drug [[bucindolol]] will have any effect on a particular patient.

In a separate study of 600+ women initially referred for coronary angiography and then followed for 6 years, during which time 115 experienced a heart problem, [[rs1801253]](G;G) individuals were calculated to be at higher risk (adjusted hazard ratio 3.63, CI: 1.17â€“11.28). This risk was specifically for myocardial infarction, and was only seen in women without obstructive coronary artery disease.{{PMID|18331634|OA=1
}}

Other press releases or articles include:

* Alters response to heart failure drugs bisoprolol, metoprolol, and [[carvedilol]] [http://www.eurekalert.org/pub_releases/2007-01/joci-gma122106.php]

* This [http://www.eurekalert.org/pub_releases/2006-07/uomm-gvf070606.php press release] provides a helpful summary of the [PMID 16844790| research paper].

* Patent filings, such as USPTO application 20060177838 and others, include claims that "being homozygous in the .beta..sub.1AR gene to encode an arginine at position 389 {ie [[rs1801253]]} in the gene product provides the patient with a physiology that is amenable to treatment with bucindolol."

{{omim
|desc=BETA-1-ADRENERGIC RECEPTOR POLYMORPHISM, GAIN-OF-FUNCTION
|id=109630
|rsnum=1801253
|variant=0001
}}

{{PMID Auto
|PMID=19553224
|Title=Trp64Arg polymorphism in [[ADRB3]] gene is associated with elite endurance performance.
}}
(This is a SNP in a different gene.)

{{PMID Auto
|PMID=19743955
|Title=Polymorphisms of the beta1-adrenergic receptor gene are associated with essential hypertension in Chinese
}}

{{PharmGKB
|RSID=rs1801253
|Name_s=
|Gene_s=ADRB1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18794727
|Annotation=The G/G (Gly/Gly) genotype of this SNP was associated with increased 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.
|Drugs=muraglitazar
|Drug Classes=
|Diseases=Diabetes Mellitus; Edema; Hyperlipidemias
|Curation Level=Curated
|PharmGKB Accession ID=PA162356186
}}

{{PharmGKB
|RSID=rs1801253
|Name_s=ADRB1:389Arg>Gly
|Gene_s=ADRB1
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/adrb1/variant.jsp
|Annotation=This variant results in altered G-protein coupling and adenylyl cyclase activity and has been well studied for impact on cardiovascular disease and drug response.
|Drugs=
|Drug Classes=
|Diseases=Heart Diseases
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145206
}}

{{PharmGKB
|RSID=rs1801253
|Name_s=ADRB1:Arg389Gly (1165C>G)
|Gene_s=ADRB1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18615004
|Annotation=The haplotype defined by the C allele of this SNP and the A allele of rs1801252 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.
|Drugs=atenolol; verapamil
|Drug Classes=
|Diseases=Death
|Curation Level=Curated
|PharmGKB Accession ID=PA162167947
}}

{{PMID Auto
|PMID=21444836
|Title=Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals
|OA=1
}}

{{ClinVar
|rsid=1801253
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=115805056
|CHROM=10
|GMAF=0.2981
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050378000000170517130100
|GENEINFO=ADRB1:153
|GENE_NAME=ADRB1
|GENE_ID=153
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.115805056G>C
|CLNORIGIN=1
|CLNSIG=6
|Tags=PM;TPA;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.2975; 0.7025
|CLNACC=RCV000019322.1
|CLNDBN=Congestive heart failure and beta-blocker response, modifier of
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=109630.0001
|COMMON=1
|Disease=Congestive heart failure and beta-blocker response
}}

{{PMID Auto
|PMID=16120061
|Title=The functional significance of genetic variation within the beta-adrenoceptor.
|OA=1
}}

{{PMID Auto
|PMID=17150099
|Title=Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=17335470
|Title=Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (ADRB1) and hypertension and obesity in 7677 Danish white subjects.
}}

{{PMID Auto
|PMID=17512307
|Title=Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
|OA=1
}}

{{PMID Auto
|PMID=18059082
|Title=Association of ADRB1 and UCP3 gene polymorphisms with insulin sensitivity but not obesity.
}}

{{PMID Auto
|PMID=18187665
|Title=Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.
|OA=1
}}

{{PMID Auto
|PMID=18534365
|Title=Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19842931
|Title=GRK5 Gln41Leu polymorphism is not associated with sensitivity to beta(1)-adrenergic blockade in humans.
|OA=1
}}

{{PMID Auto
|PMID=20401335
|Title=Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20676228
|Title=Lone AF - etiologic factors and genetic insights into pathophysiolgy.
|OA=1
}}

{{PMID Auto
|PMID=21172166
|Title=Pharmacogenetics of antidepressant response.
|OA=1
}}

{{PMID Auto
|PMID=21395649
|Title=Association of beta-adrenergic receptor polymorphisms and mortality in carvedilol-treated chronic heart-failure patients.
|OA=1
}}

{{GET Evidence
|gene=ADRB1
|aa_change=Gly389Arg
|aa_change_short=G389R
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801253
|overall_frequency_n=6931
|overall_frequency_d=10184
|overall_frequency=0.680577
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|nblosum100=6
|autoscore=1
|webscore=N
|summary_short=Better outcome from treatment with atenolol vs. verapamil.
}}

[[Beta-Blocker Response]]

{{PMID Auto GWAS
  |PMID=23202124
  |Trait=Birth weight
  |Title=New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
  |RiskAllele=G
  |Pval=4E-9
  |OR=.04
  |ORtxt=[0.027-0.055] gram decrease
  |OA=1
}}

{{PMID Auto
|PMID=24371822
|Title=IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population
|OA=1
}}

{{PMID Auto
|PMID=22495925
|Title=Genetic polymorphisms inside and outside the MHC improve prediction of AS radiographic severity in addition to clinical variables.
}}

{{PMID Auto
|PMID=22703382
|Title=Effect of the Arg389Gly beta(1)-adrenoceptor polymorphism on plasma renin activity and heart rate, and the genotype-dependent response to metoprolol treatment.
}}

{{PMID Auto
|PMID=23065660
|Title=GNAS A-1121G variant is associated with improved diastolic dysfunction in response to exercise training in heart failure patients.
}}

{{PMID Auto
|PMID=24972470
|Title=ASSOCIATION OF β1 AND β3 ADRENERGIC RECEPTORS GENE POLYMORPHISMS WITH INSULIN RESISTANCE AND HIGH LIPID PROFILES RELATED TO TYPE 2 DIABETES AND METABOLIC SYNDROME
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}