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Fumihiko Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Hiroyuki Iijima; Association between SATB1 genetic variant and phenotypic features of primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci. 2016;57(12):825.
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© ARVO (1962-2015); The Authors (2016-present)
We previously performed a genome-wide association study, and reported that there is a possibility of association between the special AT-rich sequence-binding protein 1 (SATB1) genetic variants and primary open-angle glaucoma (POAG). The present study was performed to assess the association between the SATB1 genetic variant and phenotypic features in patients with POAG, including normal tension glaucoma (NTG) and high tension glaucoma (HTG).
Seven hundred and fifty Japanese patients, including 506 patients with POAG (256 patients with NTG and 250 patients with HTG) and 244 control subjects without glaucoma, were analyzed for SATB1 genetic variant (rs1052990). The genotype and allele frequencies were compared between the POAG patients and control subjects. Demographic and clinical features, including age at diagnosis of glaucoma, gender, family history of glaucoma, refractive error, maximum intraocular pressure (IOP), vertical cup-to-disc ratio, and history of glaucoma surgery, were compared among the genotypes in patients with POAG.
Although no significant differences of the genotype and allele frequencies could be found between the POAG patients and control subjects, age at diagnosis of glaucoma in POAG patients with GG (37.8 ± 25.8 years, mean±standard deviation) genotype was significantly younger (P = 0.018, analysis of variance) than that in POAG patients with AG (55.4 ± 14.0 years, P = 0.015, Bonferroni post hoc test) or AA (57.0 ± 14.0 years, P = 0.007, Bonferroni post hoc test) genotypes. Maximum IOP in POAG patients with GG (32.8 ± 14.1mmHg) genotype was also significantly higher (P = 0.036, analysis of variance) than that in POAG patients with AG (22.6 ± 7.4mmHg, P = 0.012, Bonferroni post hoc test) or AA (23.5 ± 7.9mmHg, P = 0.020, Bonferroni post hoc test) genotypes.
Association of SATB1 genetic variant with age at diagnosis of glaucoma and maximum IOP in patients with POAG indicates that SATB1 genetic variant may be associated with POAG, and be involved in the progression rather than the development of POAG.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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