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(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
rs1801252 may also influence resting heart rate; see below.
[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
|Disease||Resting heart rate|
|CLNDBN||Resting heart rate|
|CLNSRC||OMIM Allelic Variant|
[PMID 16120061] The functional significance of genetic variation within the beta-adrenoceptor.
[PMID 17512307] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
[PMID 18534365] Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19842931] GRK5 Gln41Leu polymorphism is not associated with sensitivity to beta(1)-adrenergic blockade in humans.
[PMID 20008943] Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.
[PMID 20676228] Lone AF - etiologic factors and genetic insights into pathophysiolgy.