Article
A common polymorphism in extracellular superoxide dismutase affects cardiopulmonary disease risk by altering protein distribution.
Circulation. Cardiovascular genetics - 1 Oct 2014
Hartney John M, Stidham Timothy, Goldstrohm David A, Oberley-Deegan Rebecca E, Weaver Michael R, Valnickova-Hansen Zuzana, Scavenius Carsten, Benninger Richard K P, Leahy Katelyn F, Johnson Richard, Gally Fabienne, Kosmider Beata, Zimmermann Angela K, Enghild Jan J, Nozik-Grayck Eva, Bowler Russell P
Abstract excerpt
BACKGROUND: The enzyme extracellular superoxide dismutase (EC-SOD; SOD3) is a major antioxidant defense in lung and vasculature. A nonsynonomous single-nucleotide polymorphism in EC-SOD (rs1799895) leads to an arginine to glycine amino acid substitution at position 213 (R213G) in the heparin-binding domain. In recent human genetic association studies, this single-nucleotide polymorphism attenuates the risk of...
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