Background: Genetic factors have been studied extensively for their role in the pathogenesis of primary open angle glaucoma (POAG). This study was conducted to investigate whether manganese superoxide dismutase (SOD2) variants play a significant role in POAG in a Chinese population.
Methods: This study included of 416 unrelated POAG patients and 997 unrelated control subjects. Four SOD2 tag single nucleotide polymorphisms (SNPs), including rs6917589 rs2842980, rs5746136 and rs4880, were genotyped by dye terminator-based SNaPshot method. The genotype and allele frequencies were evaluated using the χ(2) tests.
Results: Allelic association analysis showed that there were suggestive differences in the allelic distributions between POAG cases and controls for SNPs rs6917589 and rs5746136 (p = 0.0.046 and p = 0.032, respectively), but no statistically significant association was detected between the two SNPs and POAG after Bonferroni correction (p > 0.0125). The allele and genotype frequency in SNPs rs2842980 and rs4880 showed no statistically significant difference between POAG cases and controls (p = 0.128 and p = 0.867, respectively). SNP rs5746136 had a significant association with POAG in the recessive model (p = 0.003155). Haplotype ATGT generated from the four SNPs showed a trend of association with POAG (p = 0.0098).
Conclusion: Our results showed a trend of association with POAG, suggesting that SOD2 may play a significant role in the development of POAG in the Chinese population. Further work with a larger sample size and functional study is needed to confirm the importance of the SOD2 gene in the pathogenesis of glaucoma.
Keywords: POAG; SNPs; SOD2.