{{Rsnum
|rsid=1042713
|Gene=ADRB2
|Chromosome=5
|position=148826877
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4706
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 12.4 | 46.9 | 40.7
| HCB | 32.1 | 52.6 | 15.3
| JPT | 20.5 | 46.4 | 33.0
| YRI | 31.5 | 42.5 | 26.0
| ASW | 31.6 | 50.9 | 17.5
| CHB | 32.1 | 52.6 | 15.3
| CHD | 30.3 | 51.4 | 18.3
| GIH | 18.8 | 50.5 | 30.7
| LWK | 23.6 | 50.0 | 26.4
| MEX | 19.0 | 55.2 | 25.9
| MKK | 27.6 | 51.9 | 20.5
| TSI | 15.7 | 42.2 | 42.2
| HapMapRevision=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
|rsid=1042713
|allele=A
|frequency=0.325
|uid=1103654253727
|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 = 1042714
| distance = 33
}}

{{ neighbor
| rsid = 17334242
| distance = 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=rs1042713
|Name_s=ADRB2: Gly16Arg; 46G>A
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:7915137
|Annotation=Gly16 receptor had an enhanced agonist-promoted downregulation relative to Arg16 in in vitro studies using chinese hamster fibroblasts with expressed ADRB2.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA164857060
}}

{{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
}}
{{PMID Auto
|PMID=20044476
|Title=Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2:16Arg>Gly
|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=PA161145204
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2:Gly16Arg (46G>A)
|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=PA162167949
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2:Arg16Gly
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18156033
|Annotation=The ADRB2:Arg16Gly variant was not associated with asthma exacerbation in patients treated with inhaled corticosteroids plus longacting beta agonists.
|Drugs=budesonide; fluticasone propionate; formoterol; salmeterol
|Drug Classes=
|Diseases=Asthma
|Curation Level=Curated
|PharmGKB Accession ID=PA162675224
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2:Arg16Gly
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:16322642
|Annotation=Relative to ADRB2:16Gly/Gly patients with asthma, ADRB2:16Arg/Arg patients with asthma may have an impaired therapeutic response to salmeterol in either the absence or presence of concurrent inhaled corticosteroid use.
|Drugs=salmeterol
|Drug Classes=
|Diseases=Asthma
|Curation Level=Curated
|PharmGKB Accession ID=PA162675225
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2: Gly16Arg; 46G>A; Arg16
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15500895
|Annotation=Subjects who are homozygous for Arg16 and who were on regular albuterol treatment were reported to have lower morning peak flows compared with those who were not on regular albuterol treatment, suggesting that regular albuterol therapy may not be appropriate for Arg16 homozygous subjects.
|Drugs=salbutamol
|Drug Classes=
|Diseases=Asthma
|Curation Level=Curated
|PharmGKB Accession ID=PA164857059
}}

{{PharmGKB
|RSID=rs1042713
|Name_s=ADRB2: Gly16Arg; 46G>A
|Gene_s=ADRB2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:11586955
|Annotation=In healthy subjects, the Arg16 variant was associated with enhanced isoproterenol-mediated desensitization of the vasculature and enhanced isoproterenol induced-venodilation, suggesting that it may be an important determinant of the vascular response to stress.
|Drugs=isoproterenol
|Drug Classes=
|Diseases=Stress
|Curation Level=Curated
|PharmGKB Accession ID=PA164857061
}}

{{omim
|id=109690
|rsnum=1042713
|variant=0001
}}

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

{{ClinVar
|rsid=1042713
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=148206440
|CHROM=5
|GMAF=0.4702
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05017800000017051f110101
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000005.9:g.148206440G\x3d
|CLNORIGIN=1
|CLNSRCID=
109690.0001
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000019316.1; RCV000019317.1
|Tags=PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5294; 0.4706
|CLNDBN=Asthma, nocturnal, susceptibility to; Metabolic syndrome, susceptibility to
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=Asthma; Metabolic syndrome
|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=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=17150099
|Title=Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=17199132
|Title=beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort.
}}

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

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|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=18482449
|Title=Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.
|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=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=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=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=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=19745160
|Title=Trend tests for genetic association using population-based cross-sectional complex survey data.
}}

{{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=20078877
|Title=Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
|OA=1
}}

{{PMID Auto
|PMID=20167428
|Title=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 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=20592916
|Title=Pharmacogenomic approaches to asthma treatment.
|OA=1
}}

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

{{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=Gly16Arg
|aa_change_short=G16R
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042713
|overall_frequency_n=4445
|overall_frequency_d=10758
|overall_frequency=0.413181
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=6
|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=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}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}