Association between SOD2 rs6917589, rs2842980, rs5746136 and rs4880 polymorphisms and primary open angle glaucoma in a northern Chinese population

We performed an analysis of the association between SOD2 polymorphisms and development of POAG in a Northern Chinese population. A total of 261 patients and 312 healthy controls were enrolled in our study. Genotyping of rs6917589, rs2842980, rs5746136 and rs4880 was done in a 384-well plate format on the sequenom MassARRAY platform (Sequenom, San Diego, USA). We found that individuals carrying the TT genotype of rs2842980 manifested an increased risk of POAG in comparison with those carrying the AA genotype (OR= 3.30, 95% CI= 1.83-5.98). In recessive model, we observed that the TT genotype of rs2842980 showed an increased risk of POAG compared with the AA+ AT genotype (OR= 3.17, 95% CI= 1.83-5.49) in recessive model. Moreover, subjects with the AA genotype of rs5746136 presented a high risk of POAG than the GG genotype or G allele carriers in co-dominant (OR= 1.95, 95% CI= 1.09-3.49) and recessive models (OR= 1.80, 95% CI= 1.03-3.13). The haplotype analysis revealed that rs6917589 and rs4880 showed linkage disequilibrium (D'= 0.59, r2= 0.019). The ATAT haplotype showed a decreased risk of a reduction risk in DTC risk (OR= 0.55, 95% CI= 0.35-0.85, P= 0.01), while the GAGT haplotype indicated an elevated risk in POAG risk (OR= 1.52; 95% CI= 1.06-2.20; P= 0.01). In conclusion, our study firstly suggests that SOD2 polymorphism plays an important role in the development of POAG in Northern Chinese population.