Background Genetic polymorphisms of Optic atrophy 1gene have been implicated to alter the primary open angle glaucoma risk, especially the susceptibility to normal tension glaucoma (NTG), but the results are still controversial.
Methods Multiple electronic databases (up to January 20, 2012) were searched by two investigators independently. A meta-analysis was performed on the association between Optic atrophy 1 polymorphisms (rs 166850 and rs10451941) and normal tension glaucoma (NTG)/high tension glaucoma (HTG). Summary odds ratios (ORs) and 95%confidence intervals (CI) were estimated.
Results Seven studies of 713 cases and 964 controls for NTG and five studies of 1200 cases and 971 controls for HTG on IVS8+4C>T (rs 166850) and IVS8+32T>C ( rs10451941) were identified. There were significant associations between OPA1 rs10451941polymorphism and NTG susceptibility for all genetic models(C vs. T: OR=1.26, 95% CI 1.09 -1.47, p = 0.002 ; CC vs. TT: OR=1.52, 95% CI 1.04-2.20, p = 0.029; CC vs. CT+TT: OR=1.64 ,95% CI 1.16 -2.33, p = 0.005; CC+CT vs. TT: OR=1.21 ,95% CI 1.02 -1.44, p = 0.032). Also a clear association between rs 166850 variant and NTG was observed in allelic and dominant models (T vs. C OR=1.52, 95% CI 1.16 -1.99, p = 0.002;TT+TC vs. CC OR=1.50, 95% CI 1.13 -2.01, p = 0.006). However, no evidence of associations was detected between two OPA1polymorphisms and HTG susceptibility. In subgroup analyses by ethnicity, we detected the association between both OPA1 polymorphisms and risk for NTG in Caucasian but not in Asian. By contrast, no significant finding was noted between OPA1variants for HTG either in Caucasian or in Asian.
Conclusions Both IVS8+4C>T and IVS8+32T>C variants may affect individual susceptibility to NTG. Moreover, stratified analyses for NTG detected the effect of both OPA1 polymorphisms seem to be varied by ethnicity. Further investigations are needed to validate the association. |
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