|(T;T)||1||Conflicting impact reported wrt heart disease risk; may depend on ethnicity|
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],,[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.
|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 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.
|Disease||CYBA POLYMORPHISM not specified|
|CLNDBN||CYBA POLYMORPHISM not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
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|qualified_impact||Insufficiently evaluated pharmacogenetic|
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