Promethease 0.1.82
Rs1042714
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042714 |
| hapmap | rs1042714 |
| hgdp | rs1042714 |
| ensembl | rs1042714 |
| gopubmed | rs1042714 |
| scholar | rs1042714 |
| rs1042714 | |
| pharmgkb | rs1042714 |
| hgvbaseg2p | rs1042714 |
| medrefsnp | rs1042714 |
| 23andMe | rs1042714 |
| SNP Nexus |
| Gene | ADRB2 |
| Chromosome | 5 |
| Orientation | plus |
| Position | 148186666 |
| Genotype | Effect |
|---|---|
| rs1042714(C;C) | normal |
| rs1042714(C;G) | complex; see details for increased risks |
| rs1042714(G;G) | complex; see details for increased risks |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1042714(C;C) | normal | |
| Rs1042714(C;G) | complex; see details for increased risks | |
| Rs1042714(G;G) | complex; see details for increased risks |
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]
- related to OBESITY, SUSCEPTIBILITY TO according to omim 109690.0002
| Neighbor | rs1800888 |
| Distance | 412 |
| ? | (C;C) (C;G) (G;G) |
|---|---|
|
| |
| 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. |
| Neighbor | rs1042713 |
| Distance | 33 |
[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
| PharmGKB | PA161145205 |
| Name | ADRB2:27Glu>Gln |
| 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. |
| Gene | ADRB2 |
| Featue | Exon/NonSyn |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/adrb2/variant.jsp |
| Drugs | |
| Diseases | Asthma, Heart Diseases |
| Curation Level | In-Depth |
