|(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 UniProtKB (protein)|
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