Cyclin-Dependent Kinase Inhibitor 2B Gene Polymorphism Is Associated With Normal Tension Glaucoma
1. Fumihiko Mabuchi¹
2. Yoichi Sakurada¹
3. Kenji Kashiwagi¹
4. Zentaro Yamagata²
5. Hiroyuki Iijima¹
6. Shigeo Tsukahara¹
¹Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan
²Department of Health Sciences, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan
Purpose: It was reported that the cyclin-dependent kinase inhibitor 2B (CDKN2B) gene polymorphism was associated with vertical cup-disc ratio, and that there was marginal evidence for association of CDKN2B with primary open angle glaucoma (POAG). The present study was performed to assess the association of CDKN2B with the phenotypic features of POAG.
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 CDKN2B gene polymorphism (rs1063192). The genotype and allele frequencies were compared between the patients with NTG or HTG and the control subjects. Demographic and clinical features were compared between the POAG patients with and without the rs1063192 C allele.
Results: There was a significant difference (P = 0.0057) in the genotype frequencies between the NTG patients (CC: 1.4%, CT: 24.9%, TT: 73.7%) and control subjects, (CC: 6.3%, CT: 31.9%, TT: 61.8%) and the frequency of the T allele was significantly higher (p = 0.0023) in patients with NTG in comparison to the control subjects (86.2% vs. 77.7%). An almost 1.7 times increased risk of NTG (P = 0.031, odds ratio 1.72) was found with the T allele. There were no significant differences in the demographic and clinical features, including the maximum intraocular pressure, between the POAG patients with or without the rs1063192 C allele.
Conclusion: The CDKN2B gene polymorphism is considered to be a non-IOP related genetic factor for NTG.
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