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rs4673

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome16
Position88646828
GeneCYBA
is asnp
is mentioned by
dbSNPrs4673
dbSNP (old)rs4673
ClinGenrs4673
ebirs4673
HLIrs4673
Exacrs4673
Varsomers4673
Maprs4673
PheGenIrs4673
Biobankrs4673
1000 genomesrs4673
hgdprs4673
ensemblrs4673
gopubmedrs4673
geneviewrs4673
scholarrs4673
googlers4673
pharmgkbrs4673
gwascentralrs4673
openSNPrs4673
23andMers4673
23andMe allrs4673
SNP Nexus

SNPshotrs4673
SNPdbers4673
MSV3drs4673
GWAS Ctlgrs4673
GMAF0.3026
Max Magnitude1
? (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.

OMIM608508
DescCYBA POLYMORPHISM 242C-T
Variant0008
Relatedalso


Venter snp
Source plos
Gene CYBA
allele G
frequency 0.342
sift
HuRef 1103645550463
Disease Association Defects in CYBA are a cause of autosomal recessive chronic granulomatous disease (AR-CGD) (MIM:233690). AR-CGD is characterized by the failure of activated phagocytes to generate superoxide.




[PMID 21963893OA-icon.png] 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 16608528OA-icon.png] Genetic polymorphisms and susceptibility to lung disease.

[PMID 17825092OA-icon.png] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.

[PMID 18182569OA-icon.png] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 19379518OA-icon.png] 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 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21902598OA-icon.png] Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?


GET Evidence
CYBA-Y72H
aa_change Tyr72His
aa_change_short Y72H
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.620468
summary



[PMID 22919264OA-icon.png] No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients


[PMID 23576480OA-icon.png] 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.