Abstract
BackgroundGenetic polymorphisms of the Optic atrophy 1 gene have been implicated in altering the risk of primary open angle glaucoma (POAG), especially the susceptibility to normal tension glaucoma (NTG), but the results remain controversial.MethodsMultiple electronic databases (up to January 20, 2012) were searched independently by two investigators. A meta-analysis was performed on the association between Optic atrophy 1 polymorphisms (rs 166850 and rs 10451941) and normal tension glaucoma (NTG)/high tension glaucoma (HTG). Summary odds ratios (ORs) and 95% confidence intervals (CI) were estimated.ResultsSeven 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 the 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). However, no evidence of associations was detected between the OPA1 IVS8+32C>T polymorphism and POAG susceptibility to HTG. Similarly, clear associations between the rs 166850 variant and NTG were 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) but not to HTG. In subgroup analyses by ethnicity, we detected an association between both OPA1 polymorphisms and risk for NTG in Caucasians but not in Asians. By contrast, no significant findings were noted between OPA1 variants for HTG, either in Caucasians or in Asians.ConclusionsBoth the IVS8+4C>T and IVS8+32T>C variants may affect individual susceptibility to NTG. Moreover, stratified analyses for NTG detecting the effects of both OPA1 polymorphisms seemed to vary with ethnicity. Further investigations are needed to validate the association.
Highlights
Glaucoma, the leading cause of irreversible blindness worldwide [1], is characterized by visual field defects, retinal ganglion cell death, and progressive degeneration of the optic nerve [1,2,3,4]
Seven studies [48,52,53,54,55,58,59] of 713 cases and 964 controls for normal tension glaucoma (NTG), and five studies [52,55,56,58,59] of 1200 cases and 971 controls for high tension glaucoma (HTG) were included in the meta-analysis of the optic atrophy 1 (OPA1) IVS8+4 C.T genotype
Seven studies (713 cases, 964 controls) for NTG and five studies (1200 cases, 971 controls) for HTG were included in the meta-analysis of the IVS8+32T.C genotype, of which, in one study [53], the distribution of the genotypes in the control group were not in Hardy-Weinberg equilibrium (HWE, Fisher’s exact test, P,0.05)
Summary
The leading cause of irreversible blindness worldwide [1], is characterized by visual field defects, retinal ganglion cell death, and progressive degeneration of the optic nerve [1,2,3,4]. The remaining cases consist of primary open angle glaucoma (POAG) [9] and affect 70 million individuals worldwide [10,11,12]. POAG is clinically classified into high tension glaucoma (HTG), in which elevated intraocular pressure (IOP) is a major feature, and normal tension glaucoma (NTG), in which IOPs are consistently within the statistically normal population range [13,14,15], accounting for approximately a third of all POAG cases [13]. Genetic polymorphisms of the Optic atrophy 1 gene have been implicated in altering the risk of primary open angle glaucoma (POAG), especially the susceptibility to normal tension glaucoma (NTG), but the results remain controversial
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