rs1042713
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148826877 |
| Gene | ADRB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042713 |
| dbSNP (classic) | rs1042713 |
| ClinGen | rs1042713 |
| ebi | rs1042713 |
| HLI | rs1042713 |
| Exac | rs1042713 |
| Gnomad | rs1042713 |
| Varsome | rs1042713 |
| LitVar | rs1042713 |
| Map | rs1042713 |
| PheGenI | rs1042713 |
| Biobank | rs1042713 |
| 1000 genomes | rs1042713 |
| hgdp | rs1042713 |
| ensembl | rs1042713 |
| geneview | rs1042713 |
| scholar | rs1042713 |
| rs1042713 | |
| pharmgkb | rs1042713 |
| gwascentral | rs1042713 |
| openSNP | rs1042713 |
| 23andMe | rs1042713 |
| SNPshot | rs1042713 |
| SNPdbe | rs1042713 |
| MSV3d | rs1042713 |
| GWAS Ctlg | rs1042713 |
| Merged from | Rs17334242 |
| GMAF | 0.4706 |
| Max Magnitude | 1.7 |
| ? | (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 may be counter-productive in young asthma patients carrying one or especially two rs1042713(A) alleles.[PMID 19800676]
[PMID 18647184
] 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
| 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 |
| CLNACC | RCV000019316.2, RCV000019317.2, RCV000211205.1, RCV000211334.1, |
[PMID 15500681] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16385446] A testing framework for identifying susceptibility genes in the presence of epistasis.
[PMID 16741943] 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 17143563] beta-2-adrenergic receptor gene polymorphism confers susceptibility to Graves disease.
[PMID 17150099] 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 17512307] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18304332] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
[PMID 18482449] Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18534365] Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.
[PMID 18599530] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
[PMID 18603647] 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 18709160] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19111454] Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.
[PMID 19131662] 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 19190821] Association between polymorphisms in the beta2-adrenergic receptor gene with myocardial infarction and ischaemic stroke in women.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19284637] Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19576569] Diverse evolutionary histories for beta-adrenoreceptor genes in humans.
[PMID 19619703] Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.
[PMID 19717003] Pediatric obesity: etiology and treatment.
[PMID 19745160] Trend tests for genetic association using population-based cross-sectional complex survey data.
[PMID 19779622] No consistent effect of ADRB2 haplotypes on obesity, hypertension and quantitative traits of body fatness and blood pressure among 6,514 adult Danes.
[PMID 20049212] Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).
[PMID 20078877] 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 20230274] Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
[PMID 20592916] Pharmacogenomic approaches to asthma treatment.
[PMID 21233812] ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.
[PMID 21613201] 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.
[PMID 23229733] 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 22864926] 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 25682119] 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 25909056] Association between β2-Adrenergic Receptor-16Arg/Gly Gene Polymorphism and Chronic Obstructive Pulmonary Disease Risk:Systematic Review and Meta-Analysis
[PMID 28294290] Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study.
[PMID 29550988] Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?
[PMID 30972198] Single nucleotide polymorphisms of let-7-related genes increase susceptibility to breast cancer.
[PMID 31699066] Association of β2-adrenergic receptor gene polymorphisms (rs1042713, rs1042714, rs1042711) with asthma risk: a systematic review and updated meta-analysis.
[PMID 33451866] Influence of ADRB1, ADRB2, and COMT Genetic Polymorphisms on Postoperative Outcomes of Patients Undergoing Cardiac Valve Surgery.
