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From SNPedia

Geno Mag Summary
(C;C) normal
(C;G) complex; see details for increased risks
(G;G) complex; see details for increased risks
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1042714
23andMe allrs1042714
SNP Nexus

GWAS Ctlgrs1042714
Max Magnitude
? (C;C) (C;G) (G;G) 28
Several susceptibilities have been linked to rs1042714, a SNP in the ADRB2 gene that is also known as the Q27E SNP. The rs1042714(C) allele encodes the glutamine (Gln; "Q"), and the rs1042714(G) allele encodes the glutamic acid (Glu; "E").

A study of 304 patients found that the Glu27 allele led to increased risk for idiopathic venous thromboembolism; the reported odds ratio was 1.40 (CI: 1.09-1.79, p=0.006) for carriers of at least one risk allele.[PMID 16651467]

A study of 334 families with at least one child with autism found that increased risk associated with the rs1042714(G;G) homozygous genotype; the odds ratio reported was between 1.33-1.60 (CI: 1.07-2.58). The risk was approximately doubled among mothers who had clinical markers for pregnancy related stress.[PMID 17199132]

In a study of 342 patients with type-2 diabetes, the rs1042714(G;G) genotype was associated with reduced risk compared to carriers of a rs1042714(C) allele, with an odds ratio of 0.56 (CI: 0.36-0.91).[PMID 17150099OA-icon.png]

A study of 294 Italian ischemic stroke patients found increased risk associated with the rs1042714(G;G) genotype, with an odds ratio of 1.68 (CI: 1.17-2.41, p=0.005).[PMID 17531924]

A large study of almost 8,000 patients found no consistent evidence for association with obesity, type-2 diabetes or hypertension, however, there was some association between the rs1042714(G) allele and systolic blood pressure.[PMID 17221209]

Among 215 adults treated with topical beta-blockers to reduce intraocular pressure (IOP), rs1042714(C;C) genotypes were significantly more likely to experience a (desirable) IOP decrease of 20% or more (odds ratio 2.00, CI: 1.00-4.02).[PMID 18625943]


Venter snp
Source plos
Gene ADRB2
allele C
frequency 0.467
HuRef 1103654253728
Disease Association Polymorphic forms of ADRB2 could impart some form of nocturnal asthma.

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

[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 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis

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

[PMID 22199155] Gender-Dependent Association of a ?2- Adrenergic Gene Variant With Obesity Parameters in Malaysian Malays

[PMID 22363809OA-icon.png] Monocyte Gene Expression Signature of Patients with Early Onset Coronary Artery Disease

[PMID 22624056OA-icon.png] Genetic Variation in the β2-Adrenocepter Gene Is Associated with Susceptibility to Bacterial Meningitis in Adults

Risk rs1042714(C;C)
Alt rs1042714(C;C)
Reference rs1042714(G;G)
Significance Other
Disease Asthma Metabolic syndrome Obesity
Variation info
Gene ADRB2
CLNDBN Asthma, childhood, susceptibility to Metabolic syndrome, susceptibility to Obesity
Reversed 0
HGVS NC_000005.9:g.148206473G\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000019318.2, RCV000019319.2, RCV000033191.2,

[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 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.

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

[PMID 18279468OA-icon.png] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.

[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 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 18611262OA-icon.png] Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II.

[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 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 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[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 19730237] Personalized medicine: genetic variation and loss of physiologic complexity are associated with mortality in 644 trauma patients.

[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 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 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

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

[PMID 21059181] Polymorphisms of adrenergic cardiovascular control genes are associated with adolescent chronic fatigue syndrome.

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

[PMID 21395649OA-icon.png] Association of beta-adrenergic receptor polymorphisms and mortality in carvedilol-treated chronic heart-failure patients.

[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 Glu27Gln
aa_change_short E27Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.661368

[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 24322328] Evaluation of the Glutamine 27 Glutamic Acid Polymorphism in the Adrenoceptor β2 Surface Gene on Obesity and Metabolic Phenotypes in Taiwan

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