rs1801253

Chromosome : 10 , Position: 114045297

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: C

Associated Genes

ADRB1

DCLRE1A

NHLRC2

CCDC186

PLEKHS1

FAM160B1

TDRD1

VWA2

AFAP1L2

CASP7

NRAP

HABP2

Traits

Trait	Variant	PMID	Author (year)
Birth weight	C	Unknown journal	UKB Neale v2 (2018)
Cardiovascular disease	C	Am J Hum Genet	Kichaev G (2018)
Diastolic blood pressure	C	Nat Genet	Hoffmann TJ (2016)
Diastolic blood pressure (cigarette smoking interaction)	C	Am J Hum Genet	Sung YJ (2018)
Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) [EA]	C	PLoS One	Feitosa MF (2018)
Essential hypertension	C	Unknown journal	UKB SAIGE (2018)
Height	C	Am J Hum Genet	Kichaev G (2018)
High blood pressure \| illnesses of siblings	C	Unknown journal	UKB Neale v2 (2018)
High blood pressure \| vascular/heart problems diagnosed by doctor	C	Unknown journal	UKB Neale v2 (2018)
Hypertension	C	Unknown journal	UKB SAIGE (2018)
Medication use (agents acting on the renin-angiotensin system)	C	Nat Commun	Wu Y (2019)
None of the above \| vascular/heart problems diagnosed by doctor	C	Unknown journal	UKB Neale v2 (2018)
Offspring birth weight	C	Nat Genet	Warrington NM (2019)
Systolic blood pressure	C	Nat Genet	Giri A (2018)
Systolic blood pressure (cigarette smoking interaction)	C	Am J Hum Genet	Sung YJ (2018)

Summary

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 [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.[Beta-Blocker Response

[PMID 24371822] IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population

[PMID 22495925] Genetic polymorphisms inside and outside the MHC improve prediction of AS radiographic severity in addition to clinical variables.

[PMID 22703382] Effect of the Arg389Gly beta(1)-adrenoceptor polymorphism on plasma renin activity and heart rate, and the genotype-dependent response to metoprolol treatment.

[PMID 23065660] GNAS A-1121G variant is associated with improved diastolic dysfunction in response to exercise training in heart failure patients.

[PMID 24972470] ASSOCIATION OF β1 AND β3 ADRENERGIC RECEPTORS GENE POLYMORPHISMS WITH INSULIN RESISTANCE AND HIGH LIPID PROFILES RELATED TO TYPE 2 DIABETES AND METABOLIC SYNDROME

More Information

Response to drug pressure medications

is associated with the following:

Birth weight (P=4.00*10^-9) (R)

Incomplete

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.594
Latino/Admixed American	0.8078
Ashkenazi Jewish	0.614
East Asian	0.7332
European	0.7372
Other (population not assigned)	0.7422

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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