rs1801252

This is a variant in the ADRB1 gene that changes a serine to an glycine.

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ClinVar annotation

Association★☆☆☆
4 submitters2 publications

ADRB1-related disorder; Resting heart rate (RHR); not specified

View on ClinVar →
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Research that mentions this SNP (2)

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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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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
ReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology

This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.

Traits studied:5-fluorouracil toxicityanticoagulant responseantidepressant responseasthmaatrial fibrillationbeta-blocker responsebreast cancerclopidogrel responsecolorectal cancerdrug metabolismdrug responsehypertensionirinotecan toxicitylung cancerproton pump inhibitor metabolismrheumatoid arthritisthiopurine toxicitythrombosis risktype 2 diabeteswarfarin sensitivity
PubMedDOIMetascience Observatory

About ADRB1

The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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