SOD2

MEDIUM

Superoxide dismutase 2, mitochondrial

Chromosome: 6q25.3

Gene Overview

SOD2 encodes manganese superoxide dismutase, a mitochondrial enzyme that converts superoxide to hydrogen peroxide and protects against oxidative stress. The Ala16Val (rs4880) polymorphism affects mitochondrial targeting and activity. SOD2 is implicated in aging, cardiovascular disease, and conditions driven by oxidative stress; air pollution and smoking increase oxidative burden and may interact with genotype. Expressed in metabolically active tissues.

Molecular Function

superoxide dismutase activity
antioxidant defense
mitochondrial protection

Protein class: oxidoreductase

Regulatory Annotation

Promoter activity: Inducible by oxidative stress and cytokines.

eQTL tissues: heart, lung, liver

Tissue Expression Context

heartTPM range: 100-250GTEx vv8

lungTPM range: 40-120

Pathways

oxidative-stress-response

Linked Diseases & Exposures

Diseases

coronary-artery-disease— literature, strength 0.55
asthma— G×E, strength 0.5

Exposures

air-pollution— G×E, strength 0.65
tobacco— literature, strength 0.6

Mechanistic Hypotheses

Val16 allele may confer lower mitochondrial SOD activity under stress; in high oxidative environments (PM2.5, smoking), cardiovascular and respiratory risk may be amplified.

In vitro and some cohort data; evidence mixed.

MEDIUM

Confidence Rating

Overall evidence confidence for this gene entry: MEDIUM

References

1.Sutton A, et al. (2003). SOD2 Ala16Val and oxidative stress phenotypes. Free Radical Biology and Medicine. doi:10.1016/S0891-5849(03)00423-0