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rs1042714

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome5
Position148826910
GeneADRB2
is asnp
is mentioned by
dbSNPrs1042714
ebirs1042714
HLIrs1042714
Exacrs1042714
Varsomers1042714
Maprs1042714
PheGenIrs1042714
hapmaprs1042714
1000 genomesrs1042714
hgdprs1042714
ensemblrs1042714
gopubmedrs1042714
geneviewrs1042714
scholarrs1042714
googlers1042714
pharmgkbrs1042714
gwascentralrs1042714
openSNPrs1042714
23andMers1042714
23andMe allrs1042714
SNP Nexus

SNPshotrs1042714
SNPdbers1042714
MSV3drs1042714
GWAS Ctlgrs1042714
GMAF0.2383
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]

OMIM109690
DescOBESITY, SUSCEPTIBILITY TO
Variant0002
Relatedalso
Neighborrs1800888
Distance412


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


Neighborrs1042713
Distance33
[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


ClinVar
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
ADRB2-E27Q
aa_change Glu27Gln
aa_change_short E27Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.661368
summary



[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