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rs1799895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(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
ReferenceGRCh38 38.1/141
Chromosome4
Position24800212
GeneSOD3
is asnp
is mentioned by
dbSNPrs1799895
ebirs1799895
HLIrs1799895
Exacrs1799895
Varsomers1799895
Maprs1799895
PheGenIrs1799895
hapmaprs1799895
1000 genomesrs1799895
hgdprs1799895
ensemblrs1799895
gopubmedrs1799895
geneviewrs1799895
scholarrs1799895
googlers1799895
pharmgkbrs1799895
gwascentralrs1799895
openSNPrs1799895
23andMers1799895
23andMe allrs1799895
SNP Nexus

SNPshotrs1799895
SNPdbers1799895
MSV3drs1799895
GWAS Ctlgrs1799895
GMAF0.02296
Max Magnitude2.5

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 25085920OA-icon.png]

See also OMIM 185490.0001

OMIM185490
Desc
Variant0001
Relatedalso


[PMID 21351093] Association of superoxide dismutases and NAD(P)H quinone oxidoreductases with prognosis of patients with breast carcinomas


ClinVar
Risk rs1799895(G;G)
Alt rs1799895(G;G)
Reference rs1799895(C;C)
Significance Pathogenic
Disease Superoxide dismutase
Variation info
Gene SOD3
CLNDBN Superoxide dismutase, elevated extracellular
Reversed 0
HGVS NC_000004.11:g.24801834C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013615.22,



[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.


[PMID 17903307OA-icon.png] Framingham Heart Study genome-wide association: results for pulmonary function measures.


[PMID 18703790OA-icon.png] Superoxide dismutase 3 polymorphism associated with reduced lung function in two large populations.


[PMID 18948423OA-icon.png] 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 19318538OA-icon.png] Superoxide dismutase 3, extracellular (SOD3) variants and lung function.


[PMID 19390575OA-icon.png] Lung cancer susceptibility model based on age, family history and genetic variants.


[PMID 20673035OA-icon.png] 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 25085920OA-icon.png] A Common Polymorphism in EC-SOD Affects Cardiopulmonary Disease Risk by Altering Protein Distribution