|(C;C)||0||common in clinvar|
|(C;G)||2||Slightly (~1.5x) higher relative risk for ischemic heart disease plus lower risk for lung disease|
|(G;G)||2.5||Lower risk for lung disease; Higher risk for ischemic heart disease|
rs1799895, also known as c.691C>G, p.Arg231Gly and R231G, is a SNP in the SOD3 gene on chromosome 4.
About 2-3% of the population carries a rs1799895(G) allele, which has been associated with lowered risk for lung disease (COPD; ~0.5x) yet higher risk (~1.5x) for ischemic heart disease.[PMID 14662715]
Based on studies in mice, this paradoxical effect appears to be related to preferential distribution of the variant extracellular SOD enzyme from lung and vascular tissue to extracellular fluid. This redistribution is hypothesized to be beneficial in alveolar lung disease but detrimental in pulmonary vascular disease.[PMID 25085920]
See also OMIM 185490.0001
[PMID 21351093] Association of superoxide dismutases and NAD(P)H quinone oxidoreductases with prognosis of patients with breast carcinomas
|CLNDBN||Superoxide dismutase, elevated extracellular|
|CLNSRC||OMIM Allelic Variant|
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 17903307] Framingham Heart Study genome-wide association: results for pulmonary function measures.
[PMID 18703790] Superoxide dismutase 3 polymorphism associated with reduced lung function in two large populations.
[PMID 18948423] Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality.
[PMID 18971527] A haplotype-based case-control study examining human extracellular superoxide dismutase gene and essential hypertension.
[PMID 19200140] Association of extracellular superoxide dismutase gene with cerebral infarction in women: a haplotype-based case-control study.
[PMID 19318538] Superoxide dismutase 3, extracellular (SOD3) variants and lung function.
[PMID 19390575] Lung cancer susceptibility model based on age, family history and genetic variants.
[PMID 20673035] Polymorphisms in the superoxide dismutase-3 gene are associated with emphysema in COPD.
[PMID 20966810] Superoxide dismutase and nicotinamide adenine dinucleotide phosphate: quinone oxidoreductase polymorphisms and pancreatic cancer risk.
[PMID 25085920] A Common Polymorphism in EC-SOD Affects Cardiopulmonary Disease Risk by Altering Protein Distribution