Mabuchi Fumihiko, Tang Sa, Ando Daisuke, Yamakita Mitsuya, Wang Jingyu, Kashiwagi Kenji, Yamagata Zentaro, Iijima Hiroyuki, Tsukahara Shigeo
Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Mol Vis. 2005 Aug 12;11:609-12.
To assess whether genetic polymorphisms of the apolipoprotein E (APOE) gene are associated with open angle glaucoma (OAG) in the Japanese population.
Genomic DNA was examined in a cohort of 310 Japanese patients with OAG and 179 control subjects. The average age was 63.5+/-14.4 years (mean+/-SD) for the OAG patients and 65.5+/-11.6 years for the control subjects. The presence or absence of OAG in patients and controls was based on clinical examination and/or ophthalmic records. The APOE allele frequency (epsilon2, epsilon3, and epsilon4 alleles) was studied by restriction fragment length polymorphism, and compared between OAG patients and control subjects. The association between the intraocular pressure (IOP) and the APOE alleles was also evaluated.
There was a significant difference in the APOE genotype frequencies between these groups (p=0.0006 chi2 test). The frequencies of the epsilon2 and epsilon4 alleles were significantly lower in the OAG patients (epsilon2: 2.6%; epsilon4: 6.0%) compared to the control subjects (epsilon2: 5.0%, p=0.048; epsilon4: 10.6%, p=0.012; Fisher's exact test). The frequency of the epsilon3 allele was significantly higher in the OAG patients (91.4%) compared to the control subjects (84.4%, p=0.0010; Fisher's exact test). Adjusted for age, gender, and IOP, an appropriate three fold reduction in OAG risk (odds ratio [OR] 0.29, 95% confidence interval [CI] 0.10 to 0.80; p=0.018) was found with the epsilon2 allele and a two fold increased risk of OAG (OR 1.97, 95% CI 1.06 to 3.67; p=0.033) was found with the epsilon3 allele. The maximum IOP (18.3+/-6.0 mm Hg) in patients with the epsilon4 allele was significantly lower than that (21.3+/-9.1 mm Hg) in patients without the epsilon4 allele (p=0.006, Student's t-test).
The APOE gene polymorphism is associated with OAG in the Japanese population. Further studies in the other ethnic populations should be performed to elucidate the relationship between APOE and OAG.
评估载脂蛋白E（APOE）基因的遗传多态性是否与日本人群中的开角型青光眼（OAG）相关。
对310例日本OAG患者和179例对照者的基因组DNA进行检测。OAG患者的平均年龄为63.5±14.4岁（均值±标准差），对照者的平均年龄为65.5±11.6岁。患者和对照者中OAG的有无基于临床检查和/或眼科记录。通过限制性片段长度多态性研究APOE等位基因频率（ε2、ε3和ε4等位基因），并在OAG患者和对照者之间进行比较。还评估了眼压（IOP）与APOE等位基因之间的关联。
这些组之间的APOE基因型频率存在显著差异（χ2检验，p = 0.0006）。与对照者（ε2：5.0%，p = 0.048；ε4：10.6%，p = 0.012；Fisher精确检验）相比，OAG患者中ε2和ε4等位基因的频率显著较低（ε2：2.6%；ε4：6.0%）。与对照者（84.4%，p = 0.0010；Fisher精确检验）相比，OAG患者中ε3等位基因的频率显著较高（91.4%）。在对年龄、性别和IOP进行校正后，发现携带ε2等位基因的OAG风险适当降低了三倍（优势比[OR]0.29，95%置信区间[CI]0.10至0.80；p = 0.018），而携带ε3等位基因的OAG风险增加了两倍（OR 1.97，95%CI 1.06至3.67；p = 0.033）。携带ε4等位基因的患者的最高眼压（18.3±6.0 mmHg）显著低于不携带ε4等位基因的患者（21.3±9.1 mmHg）（Student t检验，p = 0.006）。
APOE基因多态性与日本人群中的OAG相关。应在其他种族人群中进行进一步研究，以阐明APOE与OAG之间的关系。
