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rs1801252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 None
(A;G)
(G;G) 3
ReferenceGRCh38 38.1/141
Chromosome10
Position114044277
GeneADRB1
is asnp
is mentioned by
dbSNPrs1801252
ebirs1801252
HLIrs1801252
Exacrs1801252
Varsomers1801252
Maprs1801252
PheGenIrs1801252
hapmaprs1801252
1000 genomesrs1801252
hgdprs1801252
ensemblrs1801252
gopubmedrs1801252
geneviewrs1801252
scholarrs1801252
googlers1801252
pharmgkbrs1801252
gwascentralrs1801252
openSNPrs1801252
23andMers1801252
23andMe allrs1801252
SNP Nexus

SNPshotrs1801252
SNPdbers1801252
MSV3drs1801252
GWAS Ctlgrs1801252
GMAF0.1717
Max Magnitude3
? (A;A) (A;G) (G;G) 28
Variation at this SNP, located in the ADRB1 gene, may encode either the amino acid serine or glycine at amino acid position 49 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Ser49Gly). 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 rs1801253, which encodes an amino acid variant at position 389 of the same (ADRB1) protein.

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 may also influence resting heart rate; see below.

OMIM109630
DescRESTING HEART RATE
Variant0002
Relatedalso

[PMID 15312808] - Additionally, rs1801252 may have some influence on personality, with Gly carriers showing increased odds of low or very low extraversion levels in this particular study (OR = 1.69, 95% CI 1.05-2.71).


[PMID 19743955] Polymorphisms of the beta1-adrenergic receptor gene are associated with essential hypertension in Chinese





ClinVar
Risk rs1801252(G;G)
Alt rs1801252(G;G)
Reference rs1801252(A;A)
Significance Other
Disease Resting heart rate
Variation info
Gene ADRB1
CLNDBN Resting heart rate
Reversed 0
HGVS NC_000010.10:g.115804036A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019323.27,



[PMID 16120061OA-icon.png] The functional significance of genetic variation within the beta-adrenoceptor.


[PMID 17512307OA-icon.png] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.


[PMID 18534365OA-icon.png] Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19842931OA-icon.png] GRK5 Gln41Leu polymorphism is not associated with sensitivity to beta(1)-adrenergic blockade in humans.


[PMID 20008943OA-icon.png] Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.


[PMID 20676228OA-icon.png] Lone AF - etiologic factors and genetic insights into pathophysiolgy.


GET Evidence
ADRB1-S49G
aa_change Ser49Gly
aa_change_short S49G
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.136942
summary Better outcome from treatment with atenolol vs. verapamil.