Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population.
Mabuchi Fumihiko, Mabuchi Nakako, Takamoto Mitsuko, Sakurada Yoichi, Yoneyama Seigo, Kashiwagi Kenji, Iijima Hiroyuki, Yamagata Zentaro, Aihara Makoto, Iwata Takeshi
AI Summary
A genetic variant near PLXDC2 increases primary open-angle glaucoma risk in Japanese individuals by raising intraocular pressure, highlighting a genetic predisposition for higher IOP.
Abstract
Purpose
The purpose of this study is to assess the association between the genetic variants that were previously reported to be associated with primary open-angle glaucoma (POAG) in the Japanese population and the phenotypic features.
Methods
A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). The allele frequency differences between POAG (NTG or HTG) patients and control subjects were estimated. The association between these genetic variants and the phenotypic features, including the maximum intraocular pressure (IOP) and the vertical cup-to-disc ratio, was evaluated.
Results
There was a significant difference in the rs7081455 (PLXDC2) allele frequencies between the POAG (P=0.0050) patients and the control subjects. An almost 1.5 increase in the risk of POAG (P=0.0042, odds ratio 1.52) was found with a G allele of rs7081455 (PLXDC2). The maximum IOP [23.5±10.3 mm Hg (mean±SD)] in patients with the GG genotype of rs7081455 (PLXDC2) was significantly higher (P=0.0037) than that (19.9±7.4 mm Hg) in patients with the TT genotype.
Conclusions
The genetic variant near the PLXDC2 gene was found to influence the risk of POAG by increasing IOP in the Japanese population.
MeSH Terms
Shields Classification
Key Concepts4
There was a significant difference in the rs7081455 (PLXDC2) allele frequencies between primary open-angle glaucoma (POAG) patients and control subjects in a study of 661 Japanese patients (P=0.0050).
An almost 1.5-fold increase in the risk of primary open-angle glaucoma (POAG) (P=0.0042, odds ratio 1.52) was found with a G allele of rs7081455 (PLXDC2) in a study of 661 Japanese patients.
The maximum intraocular pressure (IOP) [23.5±10.3 mm Hg (mean±SD)] in patients with the GG genotype of rs7081455 (PLXDC2) was significantly higher (P=0.0037) than that (19.9±7.4 mm Hg) in patients with the TT genotype, in a study of 661 Japanese patients.
The genetic variant near the PLXDC2 gene was found to influence the risk of primary open-angle glaucoma (POAG) by increasing intraocular pressure (IOP) in the Japanese population, based on a study of 661 Japanese patients.
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