{{Rsnum
|rsid=1042714
|Gene=ADRB2
|Chromosome=5
|position=148826910
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.2383
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 38.5 | 30.8 | 30.8
| HCB | 75.6 | 24.4 | 0.0
| JPT | 86.4 | 11.4 | 2.3
| YRI | 71.4 | 23.8 | 4.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 75.6 | 24.4 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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|17150099|OA=1
}}

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}}

{{omim
|desc=OBESITY, SUSCEPTIBILITY TO
|id=109690
|rsnum=1042714
|variant=0002
}}

{{ neighbor
| rsid = 1800888
| distance = 412
}}

{{Venter SNP
|rsid=1042714
|allele=C
|frequency=0.467
|uid=1103654253728
|type=heterozygous_SNP
|hugo=ADRB2
|ensembl gene=ENSG00000169252
|ensembl transcript=ENST00000305988
|sift=TOLERATED
|disease=Polymorphic forms of ADRB2 could impart some form of nocturnal asthma.
}}
{{ neighbor
| rsid = 1042713
| distance = 33
}}

{{PMID Auto
|PMID=19284637
|Title=Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.
|OA=1
}}

{{PMID Auto
|PMID=18647184
|Title=Association between polymorphisms in the beta2-adrenoceptor gene and migraine in women
|OA=1
}}

{{PMID Auto
|PMID=19553224
|Title=Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance
}}
{{PMID Auto
|PMID=19565482
|Title=Association of adrenergic receptor gene polymorphisms with different [[fibromyalgia]] syndrome domains
}}

{{PharmGKB
|RSID=rs1042714
|Name_s=ADRB2: Gln27Glu; 318C>G
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15153795; PubMed ID:15867853; PubMed ID:15987731
|Annotation=Three recent meta-analyses have shown that the Gln27Glu and Gly16Arg polymorphisms are not associated with asthma.
|Drugs=
|Drug Classes=
|Diseases=Asthma
|Curation Level=Curated
|PharmGKB Accession ID=PA164857062
}}

{{PMID Auto
|PMID=20523301
|Title=Role of beta(2)-Adrenergic Receptor Polymorphisms on Body Weight and Body Composition Response to Energy Restriction in Obese Women: Preliminary Results
}}

{{PharmGKB
|RSID=rs1042714
|Name_s=ADRB2:27Glu>Gln
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/adrb2/variant.jsp
|Annotation=This variant has been studied in terms of asthma and its drug response and in terms of heart disease and vascular phenotypes and their drug responses.
|Drugs=
|Drug Classes=
|Diseases=Asthma; Heart Diseases
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145205
}}

{{PharmGKB
|RSID=rs1042714
|Name_s=ADRB2:Gln27Glu; ADRB2:79C>G
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18615004
|Annotation=None of the ADRB2 haplotypes tested that contained this SNP were associated with differential primary outcome (i.e., the first incidence of death, nonfatal myocardial infarction, or nonfatal stroke) in hypertensive patients with coronary artery disease.
|Drugs=atenolol; verapamil
|Drug Classes=
|Diseases=Coronary Artery Disease; Death; Hypertension; Myocardial Infarction; Stroke
|Curation Level=Curated
|PharmGKB Accession ID=PA162167948
}}

{{PharmGKB
|RSID=rs1042714
|Name_s=ADRB2: Gln27Glu; 318C>G ; Gln27
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:12835612; PubMed ID:15861037
|Annotation=Heart failure patients homozygous for Gln27 were less likely to have improved left ventricular ejection fraction after carvedilol treatment compared to Glu27 carriers. However, in another study of heart failure patients, Gln27Glu polymorphism was not associated with the improvement of left ventricular ejection fraction or decrease in heart rate due to a beta blocker in stable congestive heart failure.
|Drugs=carvedilol
|Drug Classes=
|Diseases=Heart Failure
|Curation Level=Curated
|PharmGKB Accession ID=PA164857063
}}

{{PMID Auto
|PMID=21291465
|Title=The association of genetic polymorphisms with cerebral palsy: a meta-analysis
}}

{{PMID Auto
|PMID=21883537
|Title=?(2) -Adrenergic Receptor Thr164Ile Polymorphism, Blood Pressure and Ischaemic Heart Disease in 66,750 Individuals
}}

{{PMID Auto
|PMID=22199155
|Title=Gender-Dependent Association of a ?2- Adrenergic Gene Variant With Obesity Parameters in Malaysian Malays
}}

{{PMID Auto
|PMID=22363809
|Title=Monocyte Gene Expression Signature of Patients with Early Onset Coronary Artery Disease
|OA=1
}}

{{PMID Auto
|PMID=22624056
|Title=Genetic Variation in the β2-Adrenocepter Gene Is Associated with Susceptibility to Bacterial Meningitis in Adults
|OA=1
}}

{{ClinVar
|rsid=1042714
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=148206473
|CHROM=5
|GMAF=0.2386
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05017800000017051f110100
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000005.9:g.148206473G\x3d
|CLNORIGIN=1
|CLNSRCID=
109690.0002
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000019318.1; RCV000019319.1; RCV000033191.1
|Tags=PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.2383; 0.7617
|CLNDBN=Asthma, childhood, susceptibility to; Metabolic syndrome, susceptibility to; Obesity
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0028754:601665:71529:414916001
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=Asthma; Metabolic syndrome; Obesity
|GENEINFO=ADRB2:154
|GENE_ID=154
|GENE_NAME=ADRB2
}}

{{PMID Auto
|PMID=15500681
|Title=Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
|OA=1
}}

{{PMID Auto
|PMID=15726497
|Title=Gene-environment interaction effects on the development of immune responses in the 1st year of life.
|OA=1
}}

{{PMID Auto
|PMID=16385446
|Title=A testing framework for identifying susceptibility genes in the presence of epistasis.
|OA=1
}}

{{PMID Auto
|PMID=16600026
|Title=Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
|OA=1
}}

{{PMID Auto
|PMID=16642433
|Title=Polymorphism in maternal LRP8 gene is associated with fetal growth.
|OA=1
}}

{{PMID Auto
|PMID=16741943
|Title=Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder.
|OA=1
}}

{{PMID Auto
|PMID=16935688
|Title=Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study.
}}

{{PMID Auto
|PMID=17143563
|Title=beta-2-adrenergic receptor gene polymorphism confers susceptibility to Graves disease.
|OA=1
}}

{{PMID Auto
|PMID=17512307
|Title=Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
|OA=1
}}

{{PMID Auto
|PMID=18279468
|Title=Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
|OA=1
}}

{{PMID Auto
|PMID=18304332
|Title=No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
|OA=1
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18534365
|Title=Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=18599530
|Title=Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=18611262
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18640383
|Title=Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents.
}}

{{PMID Auto
|PMID=18709160
|Title=Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19111454
|Title=Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19186333
|Title=Association of codon 16 and codon 27 beta 2-adrenergic receptor gene polymorphisms with obesity: a meta-analysis.
}}

{{PMID Auto
|PMID=19190821
|Title=Association between polymorphisms in the beta2-adrenergic receptor gene with myocardial infarction and ischaemic stroke in women.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=19576569
|Title=Diverse evolutionary histories for beta-adrenoreceptor genes in humans.
|OA=1
}}

{{PMID Auto
|PMID=19619703
|Title=Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.
|OA=1
}}

{{PMID Auto
|PMID=19717003
|Title=Pediatric obesity: etiology and treatment.
|OA=1
}}

{{PMID Auto
|PMID=19730237
|Title=Personalized medicine: genetic variation and loss of physiologic complexity are associated with mortality in 644 trauma patients.
}}

{{PMID Auto
|PMID=19779622
|Title=No consistent effect of ADRB2 haplotypes on obesity, hypertension and quantitative traits of body fatness and blood pressure among 6,514 adult Danes.
|OA=1
}}

{{PMID Auto
|PMID=20049212
|Title=Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).
|OA=1
}}

{{PMID Auto
|PMID=20230274
|Title=Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.
|OA=1
}}

{{PMID Auto
|PMID=20401335
|Title=Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20592916
|Title=Pharmacogenomic approaches to asthma treatment.
|OA=1
}}

{{PMID Auto
|PMID=21059181
|Title=Polymorphisms of adrenergic cardiovascular control genes are associated with adolescent chronic fatigue syndrome.
}}

{{PMID Auto
|PMID=21233812
|Title=ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.
}}

{{PMID Auto
|PMID=21395649
|Title=Association of beta-adrenergic receptor polymorphisms and mortality in carvedilol-treated chronic heart-failure patients.
|OA=1
}}

{{PMID Auto
|PMID=21613201
|Title=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.
|OA=1
}}

{{GET Evidence
|gene=ADRB2
|aa_change=Glu27Gln
|aa_change_short=E27Q
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042714
|overall_frequency_n=7115
|overall_frequency_d=10758
|overall_frequency=0.661368
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=71
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=-2
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23229733
|Title=A functional SNP upstream of the beta-2 adrenergic receptor gene (ADRB2) is associated with obesity in Oceanic populations
|OA=1
}}

{{PMID Auto
|PMID=23245479
|Title=The association between the IL-4, ADRβ2 and ADAM 33 gene polymorphisms and asthma in the Taiwanese population
}}

{{PMID Auto
|PMID=22985077
|Title=Associations between genetic polymorphisms of beta-2 adrenergic receptor and preterm delivery in Korean women
}}

{{PMID Auto
|PMID=24012958
|Title=Single Nucleotide Polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population
}}

{{PMID Auto
|PMID=24322328
|Title=Evaluation of the Glutamine 27 Glutamic Acid Polymorphism in the Adrenoceptor β2 Surface Gene on Obesity and Metabolic Phenotypes in Taiwan
}}

{{PMID Auto
|PMID=23463918
|Title=Childhood lung function and the association with β2-adrenergic receptor haplotypes
}}

{{PMID Auto
|PMID=22864926
|Title=ADRB2 G-G haplotype associated with breast cancer risk among Hispanic and non-Hispanic white women: interaction with type 2 diabetes and obesity.
|OA=1
}}

{{PMID Auto
|PMID=22900502
|Title=Association between beta2-adrenoceptor (ADRB2) haplotypes and insulin resistance in PCOS.
}}

{{PMID Auto
|PMID=23229623
|Title=ADRB2, brain white matter integrity and cognitive ageing in the Lothian Birth Cohort 1936.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}