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rs1042713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.7 1.7x increased risk that pediatric inhaler use may make asthma worse
(A;G) 1.3 1.3x increased risk that pediatric inhaler use may make asthma worse
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome5
Position148826877
GeneADRB2
is asnp
is mentioned by
dbSNPrs1042713
ebirs1042713
HLIrs1042713
Exacrs1042713
Varsomers1042713
Maprs1042713
PheGenIrs1042713
hapmaprs1042713
1000 genomesrs1042713
hgdprs1042713
ensemblrs1042713
gopubmedrs1042713
geneviewrs1042713
scholarrs1042713
googlers1042713
pharmgkbrs1042713
gwascentralrs1042713
openSNPrs1042713
23andMers1042713
23andMe allrs1042713
SNP Nexus

SNPshotrs1042713
SNPdbers1042713
MSV3drs1042713
GWAS Ctlgrs1042713
Merged fromRs17334242
GMAF0.4706
Max Magnitude1.7
? (A;A) (A;G) (G;G) 28
rs1042713, also known as Arg16, G16R, and 16Arg>Gly, is a SNP in the adrenergic, beta-2-, surface receptor ADRB2 gene. The rs1042713(G) allele encodes the G/glycine form that is the more common one in most populations, while rs1042713(A) encodes the R/arginine residue at this position of the ADRB2 protein.

A study of 1,182 young Scottish asthma patients (age, 3-22 years) concluded that rs1042713(A) alleles are significantly associated with "exacerbations" of their condition, regardless of treatment regimens (odds ratio 1.30, CI: 1.09-1.55, p=0.003). This didn't hold true for patients using inhalers less than once per day; and it was particularly true for those receiving daily inhaled long- or short-acting beta(2)-agonist treatment (OR, 1.64, CI: 1.22-2.20, p=.001). This may therefore indicate that regular inhalant use of albuterol (found in Ventolin) or long-acting agonists, such as salmeterol found in Advair, may be counter-productive in young asthma patients carrying one or especially two rs1042713(A) alleles.[PMID 19800676]


Venter snp
Source plos
Gene ADRB2
allele A
frequency 0.325
sift TOLERATED
HuRef 1103654253727
Disease Association Polymorphic forms of ADRB2 could impart some form of nocturnal asthma.



Neighborrs1042714
Distance33
Neighborrs17334242
Distance1
[PMID 18647184OA-icon.png] Association between polymorphisms in the beta2-adrenoceptor gene and migraine in women


[PMID 19553224] Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance

[PMID 19565482] Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains



[PMID 20523301] Role of beta(2)-Adrenergic Receptor Polymorphisms on Body Weight and Body Composition Response to Energy Restriction in Obese Women: Preliminary Results

[PMID 20044476] Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners







OMIM109690
Desc
Variant0001
Relatedalso


[PMID 21883537] ?(2) -Adrenergic Receptor Thr164Ile Polymorphism, Blood Pressure and Ischaemic Heart Disease in 66,750 Individuals


ClinVar
Risk rs1042713(A;A)
Alt rs1042713(A;A)
Reference rs1042713(G;G)
Significance Other
Disease Asthma Metabolic syndrome salbutamol response - Efficacy salmeterol response - Efficacy
Variation info
Gene ADRB2
CLNDBN Asthma, nocturnal, susceptibility to Metabolic syndrome, susceptibility to salbutamol response - Efficacy salmeterol response - Efficacy
Reversed 0
HGVS NC_000005.9:g.148206440G\x3d; NC_000005.9:g.148206440G>A
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000019316.2, RCV000019317.2, RCV000211205.1, RCV000211334.1,



[PMID 15500681OA-icon.png] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.


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


[PMID 16385446OA-icon.png] A testing framework for identifying susceptibility genes in the presence of epistasis.


[PMID 16741943OA-icon.png] Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder.


[PMID 16935688] Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study.


[PMID 17143563OA-icon.png] beta-2-adrenergic receptor gene polymorphism confers susceptibility to Graves disease.


[PMID 17150099OA-icon.png] Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.


[PMID 17199132] beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort.


[PMID 17512307OA-icon.png] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18304332OA-icon.png] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.


[PMID 18482449OA-icon.png] Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.


[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 18534365OA-icon.png] Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.


[PMID 18599530OA-icon.png] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18640383] Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents.


[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 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19111454OA-icon.png] Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.


[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 19186333] Association of codon 16 and codon 27 beta 2-adrenergic receptor gene polymorphisms with obesity: a meta-analysis.


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


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[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 19576569OA-icon.png] Diverse evolutionary histories for beta-adrenoreceptor genes in humans.


[PMID 19619703OA-icon.png] Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.


[PMID 19717003OA-icon.png] Pediatric obesity: etiology and treatment.


[PMID 19745160] Trend tests for genetic association using population-based cross-sectional complex survey data.


[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.


[PMID 20049212OA-icon.png] Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).


[PMID 20078877OA-icon.png] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.


[PMID 20167428] Genetic variation in the beta2-adrenergic receptor but not catecholamine-O-methyltransferase predisposes to chronic pain: results from the 1958 British Birth Cohort Study.


[PMID 20230274OA-icon.png] Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.


[PMID 20401335OA-icon.png] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.


[PMID 20592916OA-icon.png] Pharmacogenomic approaches to asthma treatment.


[PMID 21233812] ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.


[PMID 21613201OA-icon.png] The effect of maternal and fetal beta2-adrenoceptor and nitric oxide synthase genotype on vasopressor requirement and fetal acid-base status during spinal anesthesia for cesarean delivery.


GET Evidence
ADRB2-G16R
aa_change Gly16Arg
aa_change_short G16R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.413181
summary



[PMID 23229733OA-icon.png] A functional SNP upstream of the beta-2 adrenergic receptor gene (ADRB2) is associated with obesity in Oceanic populations


[PMID 23245479] The association between the IL-4, ADRβ2 and ADAM 33 gene polymorphisms and asthma in the Taiwanese population


[PMID 22985077] Associations between genetic polymorphisms of beta-2 adrenergic receptor and preterm delivery in Korean women


[PMID 24012958] Single Nucleotide Polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population


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


[PMID 22864926OA-icon.png] ADRB2 G-G haplotype associated with breast cancer risk among Hispanic and non-Hispanic white women: interaction with type 2 diabetes and obesity.


[PMID 22900502] Association between beta2-adrenoceptor (ADRB2) haplotypes and insulin resistance in PCOS.


[PMID 23229623] ADRB2, brain white matter integrity and cognitive ageing in the Lothian Birth Cohort 1936.


[PMID 25682119OA-icon.png] Genetic Factors Associated with Exercise Performance in Atmospheric Hypoxia


[PMID 25761120] A Genetic Predisposition Score Associates with Reduced Aerobic Capacity in Response to Acute Normobaric Hypoxia in Lowlanders


[PMID 25909056OA-icon.png] Association between β2-Adrenergic Receptor-16Arg/Gly Gene Polymorphism and Chronic Obstructive Pulmonary Disease Risk:Systematic Review and Meta-Analysis