rs4673
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 0 | normal |
| (T;T) | 1 | Conflicting impact reported wrt heart disease risk; may depend on ethnicity |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 88646828 |
| Gene | CYBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4673 |
| dbSNP (classic) | rs4673 |
| ClinGen | rs4673 |
| ebi | rs4673 |
| HLI | rs4673 |
| Exac | rs4673 |
| Gnomad | rs4673 |
| Varsome | rs4673 |
| LitVar | rs4673 |
| Map | rs4673 |
| PheGenI | rs4673 |
| Biobank | rs4673 |
| 1000 genomes | rs4673 |
| hgdp | rs4673 |
| ensembl | rs4673 |
| geneview | rs4673 |
| scholar | rs4673 |
| rs4673 | |
| pharmgkb | rs4673 |
| gwascentral | rs4673 |
| openSNP | rs4673 |
| 23andMe | rs4673 |
| SNPshot | rs4673 |
| SNPdbe | rs4673 |
| MSV3d | rs4673 |
| GWAS Ctlg | rs4673 |
| GMAF | 0.3026 |
| Max Magnitude | 1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4673, also known as C242T or H72Y, is a SNP in the NAD(P)H oxidase p22(phox) subunit CYBA gene on chromosome 16.
The rs4673(T) allele, and specifically (T;T) genotype, has been reported in several studies to be associated with reduced risk for cardiovascular disease risk, such as hypertension, atherosclerosis, and myocardial infarction, and to reduce oxidative burst in neutrophils.[PMID 18184111],[PMID 15860042],[1],[PMID 15078863]
However, other studies have found no support for this, or even found the opposite. For example, a study of German patients with ischemic stroke or transient ischemic attack under the age of 50 (n = 161) concluded that rs4673(T;T) individuals were almost 4 times more likely to experience cerebral ischemia (odds ratio 3.85, CI: 1.39-10.64) compared to rs4673(C;T) or (C;C) individuals after adjusting for classical risk factors.[PMID 18799874]
Whether the variant reduces or increases risk may even depend on the ethnic group in question. [PMID 20100625] A meta-analysis concluded that the T allele effect may vary between ethnicities in both direction of effect and significance; Asian populations may have reduced coronary artery disease risk associated with the T allele.
[PMID 21963893
] Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population
[PMID 22011848] Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels
[PMID 22410402] Association between rs4673 (C/T) and rs13306294 (A/G) haplotypes of NAD(P)H oxidase p22phox gene and severity of stenosis in coronary arteries.
| ClinVar | |
|---|---|
| Risk | Rs4673(C;C) |
| Alt | Rs4673(C;C) |
| Reference | Rs4673(T;T) |
| Significance | Non-pathogenic |
| Disease | CYBA POLYMORPHISM not specified |
| Variation | info |
| Gene | CYBA |
| CLNDBN | CYBA POLYMORPHISM not specified |
| Reversed | 1 |
| HGVS | NC_000016.9:g.88713236A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002351.2, RCV000249071.1, |
[PMID 16608528] Genetic polymorphisms and susceptibility to lung disease.
[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.
[PMID 18182569] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19448608] Analysis of the host pharmacogenetic background for prediction of outcome and toxicity in diffuse large B-cell lymphoma treated with R-CHOP21.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21902598] Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?
[PMID 22919264] No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients
[PMID 23576480] Association of Anthracycline-Related Cardiac Histological Lesions With NADPH Oxidase Functional Polymorphisms
[PMID 23725037] Polymorphism in the HMOX1 Gene is Associated with High Levels of Fetal Hemoglobin in Brazilian Patients with Sickle Cell Anemia
[PMID 24156725] Association of the C242T polymorphism in the NAD(P)H oxidase p22 phox gene with type 2 diabetes mellitus risk: A meta-analysis
[PMID 23560644] Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
[PMID 28474233] Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis.
[PMID 29342889] A Case-Control Study of the Genetic Variability in Reactive Oxygen Species-Metabolizing Enzymes in Melanoma Risk.
[PMID 30654669] Association of single nucleotide polymorphisms in the CYBA gene with coal workers' pneumoconiosis in the Han Chinese population.
