RGD Reference Report - The beta3-adrenergic receptor Trp64Arg mutation is not associated with coronary artery disease. - Rat Genome Database

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The beta3-adrenergic receptor Trp64Arg mutation is not associated with coronary artery disease.

Authors: Stangl, K  Cascorbi, I  Laule, M  Stangl, V  Meisel, C  Wernecke, KD  Ziemer, S  Baumann, G  Roots, I  Hauner, H 
Citation: Stangl K, etal., Metabolism. 2001 Feb;50(2):184-8.
RGD ID: 5684412
Pubmed: PMID:11229427   (View Abstract at PubMed)
DOI: DOI:10.1053/meta.2001.20179   (Journal Full-text)

There is some evidence that the Trp64Arg polymorphism of the beta3-adrenergic receptor (beta3-AR) is associated with atherogenic risk factors that include weight gain, insulin resistance, and diabetes. The objective of this cross-sectional study was to investigate the relationship between the Trp64Arg polymorphism and coronary artery disease (CAD). A total of 1,000 consecutive patients with angiographically confirmed CAD and 1,000 controls, carefully matched for age and sex, were genotyped for the Trp64Arg polymorphism by polymerase chain restriction and subsequent restriction fragment length polymorphism analysis. Among cases with CAD, 83.3% were wild-type Trp/Trp, 15.8% were heterozygotes, and 0.9% were homozygous Arg/Arg compared with 82.3%, 17.3%, and 0.4%, respectively, among controls (P = .27). The odds ratios for the presence of Trp/Arg and Arg/Arg in cases and controls were 0.90 (95% confidence interval [CI] 0.7 to 1.2; P = .40) and 2.2 (95% CI 0.7 to 7.2; P = .17), respectively. There was no effect modification by gender and atherogenic risk factors, including diabetes, hypercholesterolemia, hypertension, and smoking. Furthermore, there was no evidence of an association with premature disease onset (< 40 years) or extent of disease. In conclusion, the results of this study in a large sample of clinically well-characterized patients indicate that neither the Trp/Arg nor the Arg/Arg genotype represents a major risk factor for angiographically confirmed coronary artery disease.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3Humancoronary artery disease no_associationIAGP DNA:missense mutation:cds:p.W64R rs4994 (human)RGD 
Adrb3Ratcoronary artery disease no_associationISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R rs4994 (human)RGD 
Adrb3Mousecoronary artery disease no_associationISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R rs4994 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3HumanAbnormal coronary artery morphology no_associationIAGP DNA:missense mutation:cds:p.W64R (rs4994)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Adrb3  (adrenoceptor beta 3)

Genes (Mus musculus)
Adrb3  (adrenergic receptor, beta 3)

Genes (Homo sapiens)
ADRB3  (adrenoceptor beta 3)


Additional Information