Association of SOD2 Mutation (c.47T > C) with Various Primary Angle Closure Glaucoma Clinical Indices.

PMID 24070129 | DOI 10.3109/13816810.2013.838276 · Ophthalmic genetics · 2015 · View on PubMed ↗

We investigated whether the c.47T>C polymorphism (SNP rs4880) in the manganese superoxide dismutase (SOD2) gene is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population. Among cases (n=139), the prevalence of various genotypes were 25.9%, 46.8% and 27.3% for T/T, C/T and C/C genotypes respectively. This trend was similar in the controls (n=403); 22.6%, 50.1% and 27.3% for T/T, C/T and C/C respectively. The differences in genotype distribution were not statistically significant (p=0.391 and 0.682 respectively). The minor allele frequency was 50.7% in cases and 52.4% in controls; this difference was not statistically significant (p=0.676). Investigating the potential association between this SOD2 polymorphism and different clinical indices, there was a statistically significant difference among different genotype groups in terms of three important clinical indices for PACG; Mean age at onset, duration of onset to and the mean LogMAR visual acuity (p=0.041, 0.018 and 0.033 respectively). The three markers are highly associated prognostic factors to diseases severity. If our results are proven in larger cohort and in various populations, then this SNP may have potentiality to be used as an indicator for PACG severity.