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From SNPedia

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
is asnp
is mentioned by
1000 genomesrs1042713
23andMe allrs1042713
SNP Nexus

GWAS Ctlgrs1042713
Merged fromRs17334242
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
HuRef 1103654253727
Disease Association Polymorphic forms of ADRB2 could impart some form of nocturnal asthma.

[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


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

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
aa_change Gly16Arg
aa_change_short G16R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.413181

[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