Purpose: To assess whether the genetic polymorphisms of estrogen receptor beta (ESR2) are associated with primary open-angle glaucoma (POAG).
Design: Case-control study.
Methods: Four hundred and twenty-five Japanese patients with POAG, including normal-tension glaucoma (NTG, n = 213) and high-tension glaucoma (HTG, n = 212), and 191 control subjects without glaucoma were analyzed for polymorphisms of rs1256031 and rs4986938 in the ESR2 gene. The genotypic and allelic frequencies were compared between NTG or HTG patients and control subjects. The phenotypic features of patients with POAG were compared between each genotype.
Results: There were significant differences in the genotype frequencies of rs1256031 and rs4986938 between the HTG patients and control subjects in women (P = .033 and P = .043 respectively). The frequencies of the C allele of rs1256031 and G allele of rs4986938 were significantly higher in patients with HTG in comparison to the control subjects in women (rs1256031: 53.6% vs 43.4%, P = .044; rs4986938: 89.2% vs 80.6%, P = .027). The maximum intraocular pressures in female POAG patients with the CC or TC genotypes of rs1256031 were significantly higher than that in female POAG patients with the TT genotype (P = .039, analysis of variance, P = .018 and P = .026 respectively).
Conclusion: The ESR2 gene polymorphism is therefore considered to be associated with an intraocular pressure elevation in female patients with POAG.
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