|| possibly reduced lung function, see details
|?|| (G;G) (G;T) (T;T) ||28|
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 18703790]
] Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality.
[PMID 19318538] Superoxide dismutase 3, extracellular (SOD3) variants and lung function.
[PMID 20673035] 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.