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rs8192287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) normal
(T;T) possibly reduced lung function, see details
ReferenceGRCh38 38.1/141
Chromosome4
Position24794946
GeneSOD3
is asnp
is mentioned by
dbSNPrs8192287
ebirs8192287
HLIrs8192287
Exacrs8192287
Varsomers8192287
Maprs8192287
PheGenIrs8192287
hapmaprs8192287
1000 genomesrs8192287
hgdprs8192287
ensemblrs8192287
gopubmedrs8192287
geneviewrs8192287
scholarrs8192287
googlers8192287
pharmgkbrs8192287
gwascentralrs8192287
openSNPrs8192287
23andMers8192287
23andMe allrs8192287
SNP Nexus

SNPshotrs8192287
SNPdbers8192287
MSV3drs8192287
GWAS Ctlgrs8192287
GMAF0.05647
Max Magnitude0
? (G;G) (G;T) (T;T) 28
rs8192287 and the nearby rs8192288 are both SNPs in the superoxide dismutase 3 SOD3 gene. This gene encodes a protein that inhibits breakdown of lung matrix components such as collagen.

A large study ultimately genotyping over 45,000 Danish adults concludes that the very rare individuals who carry only minor alleles at both rs8192287 and rs8192288 have reduced (by 7%) lung capacity compared to noncarriers. They are also at higher risk (2.5x or 3.7x, respectively) for being hospitalized in association with, or dying from, chronic obstructive pulmonary disease, also known as COPD.[PMID 18703790OA-icon.png]

Neighborrs8192288
Distance110
[PMID 18948423OA-icon.png] Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality.


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


[PMID 20673035OA-icon.png] Polymorphisms in the superoxide dismutase-3 gene are associated with emphysema in COPD.


[PMID 22574884] Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants.


[PMID 22958044] Genetic polymorphisms of antioxidant enzymes in preterm infants.