Rs1801253

From SNPedia

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: 1.17–11.28). This risk was specifically for myocardial infarction, and was only seen in women without obstructive coronary artery disease.[PMID 18331634]

Other press releases or articles include:

• Alters response to heart failure drugs bisoprolol, metoprolol, and carvedilol [1]

• This 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."