rs1800888
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 2 | increased risk of coronary artery disease |
| (T;T) | 2.5 | increased risk of coronary artery disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148827322 |
| Gene | ADRB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800888 |
| dbSNP (classic) | rs1800888 |
| ClinGen | rs1800888 |
| ebi | rs1800888 |
| HLI | rs1800888 |
| Exac | rs1800888 |
| Gnomad | rs1800888 |
| Varsome | rs1800888 |
| LitVar | rs1800888 |
| Map | rs1800888 |
| PheGenI | rs1800888 |
| Biobank | rs1800888 |
| 1000 genomes | rs1800888 |
| hgdp | rs1800888 |
| ensembl | rs1800888 |
| geneview | rs1800888 |
| scholar | rs1800888 |
| rs1800888 | |
| pharmgkb | rs1800888 |
| gwascentral | rs1800888 |
| openSNP | rs1800888 |
| 23andMe | rs1800888 |
| SNPshot | rs1800888 |
| SNPdbe | rs1800888 |
| MSV3d | rs1800888 |
| GWAS Ctlg | rs1800888 |
| GMAF | 0.005051 |
| Max Magnitude | 2.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1800888, also known as Ile164, is a SNP in the beta 2 adrenergic receptor ADRB2 gene. The rs1800888(T) encodes the much rarer Ile allele.
In a study of 330 patients undergoing percutaneous coronary intervention (PCI), patients carrying a rs1800888(T) allele showed a higher incidence of new acute myocardial infarction (17.5% vs. 4.5%, p = 0.001), new PCI (37.5% vs. 13.1%, p < 0.0001), and cardiac death (10% vs. 3.1%, p = 0.036). Regression analysis identified rs1800888(T) as an independent predictor of cardiac death (odds ratio 3.731, CI: 1.004 - 13.867, p = 0.049) and an overall major adverse cardiac event (odds ratio 4.1, CI: 1.945 - 8.640, p = 0.0001).
A replication study was done on a population of 150 patients with peripheral artery disease. The presence of the rs1800888(T) allele was associated with a higher incidence of acute myocardial infarction (54.5% vs. 25.2%, p = 0.035) or combined events (acute myocardial infarction, PCI, or coronary artery bypass graft) (63.6% vs. 30.9%, p = 0.027).[PMID 18940527]
[PMID 18647184
] Association between polymorphisms in the beta2-adrenoceptor gene and migraine in women
[PMID 21883537] ?(2) -Adrenergic Receptor Thr164Ile Polymorphism, Blood Pressure and Ischaemic Heart Disease in 66,750 Individuals
| ClinVar | |
|---|---|
| Risk | Rs1800888(T;T) |
| Alt | Rs1800888(T;T) |
| Reference | Rs1800888(C;C) |
| Significance | Drug-response |
| Disease | Beta-2-adrenoreceptor agonist |
| Variation | info |
| Gene | ADRB2 |
| CLNDBN | Beta-2-adrenoreceptor agonist, reduced response to |
| Reversed | 0 |
| HGVS | NC_000005.9:g.148206885C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019320.3, |
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 16935688] Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study.
[PMID 18709160] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19190821] Association between polymorphisms in the beta2-adrenergic receptor gene with myocardial infarction and ischaemic stroke in women.
[PMID 19284637] Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19779622] No consistent effect of ADRB2 haplotypes on obesity, hypertension and quantitative traits of body fatness and blood pressure among 6,514 adult Danes.
[PMID 23463918] Childhood lung function and the association with β2-adrenergic receptor haplotypes
[PMID 26587832] Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy
