SOD2

Gene name: superoxide dismutase 2, mitochondrial
OMIM ID: 147460
Chromosome location: 6q25.3

Polymorphisms

Disease/Phenotype	hepatocellular carcinoma, susceptibility to
DNA Change
A.A. Change	Ala-9Val
Variation Type	substitution
Cases	96 HCC patients
Controls	222 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value Val/Val 81 (36.5%) 21 (21.8%) Val/Ala 101 (45.5%) 45 (46.8%) 1.72 (0.95-3.11) 0.073 Ala/Ala 40 (18%) 30 (31.2%) 2.89 (1.47-5.68) 0.001
Comments	It appears that NOD2/Ala-9Val polymorphism have an influence on hepatocellular carcinoma risk.
Reference	Ezzikouri S, El Feydi AE, Afifi R, Benazzouz M, Hassar M, Pineau P, Benjelloun S. Polymorphisms in antioxidant defence genes and susceptibility to hepatocellular carcinoma in a Moroccan population. Free Radic Res. 2010 Feb;44(2):208-16.

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  Variant not named according to HGVS recommendations