The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma
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DOI：
10.1016/j.ajo.2006.09.028
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发表时间：
2007-01-01
影响因子：
4.2
通讯作者：
Tsukahara, Shigeo
中科院分区：
文献类型：
--
作者：
Mabuchi, Fumihiko;Tang, Sa;Tsukahara, Shigeo
目得：评估视神经萎缩1（optic atrophy 1，OPA 1）基因多态性是否与原发性开角型青光眼（primary open-angle glaucoma，POAG）相关。日本正常眼压性青光眼患者（NTG，n = 194）和高眼压性青光眼（HTG，n = 191），采用焦磷酸测序技术检测OPA 1基因插入序列（IVS）8+4胞嘧啶胸腺嘧啶（C/T）和IVS 8+32胸腺嘧啶胞嘧啶（T/C）多态性。nique.RESULTS:NTG患者和对照组之间OPA 1 IVS 8 + 32 T/C基因型频率存在显著差异（P = 0.0074），NTG患者中胱氨酸（C）等位基因的频率显著高于对照组（19.3%vs 11.6%，P = 0.0036）。校正年龄、性别、屈光不正和眼内压后，发现OPA 1 IVS 8 + 32 C等位基因的NTG风险增加近2倍（P = 0.004，比值比2.27，95%置信区间1.30 - 3.97）。OPA 1 IVS 8 + 32 T/C基因型频率在HTG组和对照组之间无显著性差异（P =.24），诊断时的年龄（53 +/- 11.0岁，OPA 1 IVS 8 + 32 C等位基因的HTG患者的平均年龄（中位数+/-绝对偏差中位数）显著低于OPA 1 IVS 8 + 32 C等位基因的HTG患者，结论：OPA 1 IVS 8 + 32 T/C多态性与NTG相关，可作为NTG与OPA 1 IVS 8 + 32 T/C多态性相关的标志物。这种多态性也影响HTG患者的表型特征，应被视为不仅是NTG，而且是HTG的遗传危险因素。
PURPOSE: To assess whether genetic polymorphisms of optic atrophy 1 (OPA1) are associated with primary open-angle glaucoma (POAG).DESIGN: Prospective case control association study.METHODS: Japanese patients with normal tension glaucoma (NTG, n = 194), and high tension glaucoma (HTG, n = 191), and 185 control subjects were analyzed for the OPA1 intervening sequence (IVS) 8+4 cystosine thymine (C/T) and IVS 8+32 thymine cystosine (T/C) polymorphisms using pyrosequencing tech. nique.RESULTS: There was a significant difference in the OPA1 IVS 8 + 32 T/C genotype frequencies between the NTG patients and control subjects (P = .0074), and the frequency of the cystosine (C) allele was significantly higher in the NTG patients compared with the control subjects (19.3% vs 11.6%, P = .0036). Adjusted for age, gender, refractive error, and intraocular pressure, an almost two-fold increased risk of NTG (P = .004, odds ratio 2.27, 95% confidence interval 1.30 to 3.97) was found with the OPA1 IVS 8 + 32 C allele. Although there was no significant difference in the OPA1 IVS 8 + 32 T/C genotype frequencies between the HTG patients and control subjects (P =.24), the age at the time of diagnosis (53 +/- 11.0 years, median value +/- median absolute deviation) in the HTG patients with the OPA1 IVS 8 + 32 C allele was significantly younger than that (57 +/- 12.0 years) in the HTG patients without C allele (P = .048).CONCLUSIONS : The OPA1 IVS 8 + 32 T/C polymorphism is associated with NTG, and may be used as a marker for this disease association. This polymorphism also influences the phenotypic feature in patients with HTG and should be considered to be a genetic risk factor not only for NTG, but also for HTG.