Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800888

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome5
Position148827322
GeneADRB2
is asnp
is mentioned by
dbSNPrs1800888
ebirs1800888
HLIrs1800888
Exacrs1800888
Varsomers1800888
Maprs1800888
PheGenIrs1800888
hapmaprs1800888
1000 genomesrs1800888
hgdprs1800888
ensemblrs1800888
gopubmedrs1800888
geneviewrs1800888
scholarrs1800888
googlers1800888
pharmgkbrs1800888
gwascentralrs1800888
openSNPrs1800888
23andMers1800888
23andMe allrs1800888
SNP Nexus

SNPshotrs1800888
SNPdbers1800888
MSV3drs1800888
GWAS Ctlgrs1800888
GMAF0.005051
Max Magnitude2.5
? (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]

OMIM109690
DescBETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO
Variant0003
Relatedalso
Neighborrs1042714
Distance412
[PMID 18647184OA-icon.png] 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
CLNACC RCV000019320.3,



[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 16600026OA-icon.png] 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 18709160OA-icon.png] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19190821OA-icon.png] Association between polymorphisms in the beta2-adrenergic receptor gene with myocardial infarction and ischaemic stroke in women.


[PMID 19284637OA-icon.png] Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


[PMID 19779622OA-icon.png] No consistent effect of ADRB2 haplotypes on obesity, hypertension and quantitative traits of body fatness and blood pressure among 6,514 adult Danes.


GET Evidence
ADRB2-T164I
aa_change Thr164Ile
aa_change_short T164I
impact pharmacogenetic
qualified_impact Low clinical importance, Uncertain pharmacogenetic
overall_frequency 0.0109686
summary This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.



[PMID 23463918] Childhood lung function and the association with β2-adrenergic receptor haplotypes


[PMID 26587832OA-icon.png] Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy