rs1801253

This is a missense variant in the ADRB1 gene.

Key Literature Trait Associations

Beta-Blocker Response

ADRB1 Gly389Arg (rs1801253 G>C) is a missense variant where the Arg389 allele (C, major allele ~70%) confers 2-3 fold higher basal adenylyl cyclase activity and greater catecholamine responsiveness. Arg389 homozygotes show significantly greater blood pressure reduction with beta-blockers (metoprolol, atenolol, bisoprolol) compared to Gly389 carriers. The 2024 CPIC guideline reviewed this variant but found insufficient evidence for clinical dosing recommendations.

Sofowora GG et al. “A common beta1-adrenergic receptor polymorphism (Arg389Gly) affects blood pressure response to beta-blockade.” Clinical Pharmacology and Therapeutics 73(4):366-371 (2003)
Allele C
OR —
p 1.0e-3
Candidate gene study
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GWAS Catalog Trait Associations (53)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

triglycerides to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 4.0e-32
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-30
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in small HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 7.0e-30
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 5.0e-29
N 450,015
Large GWAS
multi-ancestry

hypertension

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.06
p 6.0e-27
N 394,626
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 5.0e-13
N 428,138
Major Consortium StudyLarge GWAS
European

triglycerides in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-24
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 7.0e-23
N 450,015
Large GWAS
multi-ancestry

diastolic blood pressure change measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 3.0e-22
N 425,743
Major Consortium StudyLarge GWAS
European

triglycerides to phosphoglycerides ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-21
N 450,015
Large GWAS
multi-ancestry

triglycerides in very small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-20
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Association
3 submitters4 publications

Pulmonary disease, chronic obstructive, susceptibility to; ADRB1-related disorder; not provided

View on ClinVar →
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Research that mentions this SNP (4)

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Three polymorphisms of the eNOS gene and plasma levels of metabolites of nitric oxide in depressed Japanese patients: a preliminary report
AssociationN=375Atsuko Ikenouchi‐Sugita et al.(2011)· Human Psychopharmacology: Clinical and Experimental

This case-control study identified biallelic combinations of genetic variants associated with vasovagal syncope using Bayesian statistical analysis in 175 VVS patients and 200 controls. Eleven pairwise combinations of SNPs from neurohumoral regulation genes and the 2q32.1 locus were identified, with five showing significant epistatic interactions. Key associations included COMT*G with OR=2.04 (p=0.0015) and COMT*G + ADORA2A*C/C with OR=2.78 (p<0.001), suggesting a common genetic background between syncope and cardiovascular pathology.

Traits studied:Reflex syncopeVasovagal syncope
PubMedDOIMetascience Observatory
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Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c Genes
ReviewCarmen Martínez et al.(2010)· Hepatology

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

Traits studied:Bone density/osteoporosisCaffeine sensitivityCardiovascular diseaseCeliac diseaseCerebrovascular diseaseCoronary heart diseaseDetoxification capacityEating behaviorGlucose homeostasisHistamine intoleranceInflammatory diseasesInsulin resistanceLactose intoleranceLeptin resistanceMetabolic syndromeNickel intoleranceObesityOsteoarthritisOverweightType 2 diabetes
PubMedDOIMetascience Observatory
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Intraocular Pressure Response to Topical β-Blockers Associated With an ADRB2 Single-Nucleotide Polymorphism
AssociationN=210McCarty CA et al.(2008)· Archives of Ophthalmology

This pharmacogenetic study of 210 subjects from the Personalized Medicine Research Project examined whether polymorphisms in β-adrenergic receptor genes and CYP2D6 are associated with intraocular pressure (IOP) response to topical β-blockers. A coding SNP in ADRB2 (rs1042714, Gln27Glu) was significantly associated with increased IOP response (≥20% reduction) with an odds ratio of 2.00 (95% CI, 1.00-4.02; P=.05). CYP2D6 phenotypes and optineurin/myocillin polymorphisms were not significantly associated with IOP response.

Traits studied:GlaucomaIntraocular pressure response to topical beta-blockersOcular hypertension
PubMedDOIMetascience Observatory
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The search for putative unifying genetic factors for components of the metabolic syndrome
AssociationN=16,143Sjögren M. et al.(2008)· Diabetologia

This prospective study of 16,143 individuals from the Malmö Preventive Project (mean follow-up 23 years) investigated whether genetic variants in 26 genes previously associated with type 2 diabetes or metabolic syndrome components could predict future development of metabolic syndrome. Polymorphisms in TCF7L2 (rs7903146, OR 1.10, p=0.00097), FTO (rs9939609, OR 1.08, p=0.0065), WFS1 (rs10010131, OR 1.07, p=0.0078), and IGF2BP2 (rs4402960, OR 1.07, p=0.021) predicted metabolic syndrome development, with TCF7L2, WFS1, and IGF2BP2 acting through hyperglycemia and FTO through obesity. A composite genotype score of 17 polymorphisms predicted metabolic syndrome risk (OR 1.04, p<0.00001), with carriers of ≥19 risk alleles having 51% increased risk compared to carriers of ≤12 alleles.

Traits studied:DyslipidemiaHyperglycemiaHypertensionMetabolic syndromeObesityType 2 diabetes
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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