Abstract
Purpose: :
We previously reported that estrogen receptor beta (ESR2) gene polymorphism (rs1256031) was associated with an intraocular pressure (IOP) elevation in female patients with POAG. The aim of this study was to confirm the association between ESR2 gene polymorphisms and IOP in women.
Methods: :
Eight tag single nucleotide polymorphisms covering the ESR2 region (rs1256031, rs4986938, rs1256049, rs1273916, rs1256120, rs928554, rs1256059, and rs944461) were genotyped in 326 Japanese female patients, including the patients with normal tension glaucoma (NTG, n = 122), high tension glaucoma (HTG, n = 83), and 121 control subjects. Maximum IOP was compared between the genotypes using an analysis of variance (ANOVA).
Results: :
There were statistically significant differences in the maximum IOP between the genotypes of the rs1256031, rs928554, and rs1256059 (P = 0.0034, P = 0.040, and P = 0.032 respectively, ANOVA). The maximum IOPs in patients with the rs1256031 CC (20.3 ± 7.2 mmHg, mean ± standard deviation) or TC (19.8 ± 7.5 mmHg) genotypes were significantly higher (P = 0.0023 and P = 0.0039, respectively) than that in patients with the TT (17.5 ± 4.1 mmHg) genotype. Similarly, the maximum IOP (20.9 ± 8.2 mmHg) in patients with the rs928554 GG genotype was significantly higher (P = 0.015) than that (18.3 ± 5.6 mmHg) in patients with the AA genotype, and the maximum IOP (20.9 ± 8.2 mmHg) in patients with the rs1256059 TT genotype was significantly higher (P = 0.012) than that (18.2 ± 5.7 mmHg) in patients with the CC genotype.
Conclusions: :
These results strongly suggest that the ESR2 gene polymorphisms are associated with IOP elevation in women.
Keywords: intraocular pressure • gene screening • genetics