rs1042714
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;G) | complex; see details for increased risks | |
| (G;G) | complex; see details for increased risks |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148826910 |
| Gene | ADRB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042714 |
| dbSNP (classic) | rs1042714 |
| ClinGen | rs1042714 |
| ebi | rs1042714 |
| HLI | rs1042714 |
| Exac | rs1042714 |
| Gnomad | rs1042714 |
| Varsome | rs1042714 |
| LitVar | rs1042714 |
| Map | rs1042714 |
| PheGenI | rs1042714 |
| Biobank | rs1042714 |
| 1000 genomes | rs1042714 |
| hgdp | rs1042714 |
| ensembl | rs1042714 |
| geneview | rs1042714 |
| scholar | rs1042714 |
| rs1042714 | |
| pharmgkb | rs1042714 |
| gwascentral | rs1042714 |
| openSNP | rs1042714 |
| 23andMe | rs1042714 |
| SNPshot | rs1042714 |
| SNPdbe | rs1042714 |
| MSV3d | rs1042714 |
| GWAS Ctlg | rs1042714 |
| GMAF | 0.2383 |
| Max Magnitude | 0 |
| ? | (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 17150099
]
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]
[PMID 19284637] Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.
[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 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 22363809] Monocyte Gene Expression Signature of Patients with Early Onset Coronary Artery Disease
[PMID 22624056] Genetic Variation in the β2-Adrenocepter Gene Is Associated with Susceptibility to Bacterial Meningitis in Adults
| ClinVar | |
|---|---|
| Risk | Rs1042714(C;C) rs1042714(T;T) |
| Alt | Rs1042714(C;C) rs1042714(T;T) |
| 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 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 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 16642433] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[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 17512307] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
[PMID 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[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 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 18611262] 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 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 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[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 19730237] Personalized medicine: genetic variation and loss of physiologic complexity are associated with mortality in 644 trauma patients.
[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 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 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20592916] 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 21395649] Association of beta-adrenergic receptor polymorphisms and mortality in carvedilol-treated chronic heart-failure patients.
[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 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 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 25761120] A Genetic Predisposition Score Associates with Reduced Aerobic Capacity in Response to Acute Normobaric Hypoxia in Lowlanders
[PMID 29550988] Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?
[PMID 30858138] Decision tree learning to predict overweight/obesity based on body mass index and gene polymporphisms.
[PMID 31699066] Association of β2-adrenergic receptor gene polymorphisms (rs1042713, rs1042714, rs1042711) with asthma risk: a systematic review and updated meta-analysis.
