Yuan Hui-ping, Xiao Zheng, Yang Bin-bin
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Heilongjiang, Harbin 150086, China.
Zhonghua Yan Ke Za Zhi. 2007 May;43(5):416-20.
To analysis the association of apolipoprotein E (APOE) genotype with primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG) in northeast of China.
The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique were used to detect the distribution of genotype and gene frequency of APOE alleles in 36 patients with POAG, 69 with PACG and 57 healthy subjects as control.
The frequency of APOE epsilon 3/epsilon 4 genotype in POAG group (41.7%)and epsilon 2/epsilon 4 in PACG group (43.5%) was significantly (P < 0.05) higher than that in control group (14.0% and 21.1%, respectively). The frequency of APOE epsilon 4 allele in both of POAG (37.5%) and PACG group (39.2%) was significantly (P < 0.05) higher than that in control group (17.5%), whereas the frequency of APOE epsilon 2 allele in POAG group (8.3%) was significantly (P < 0.05) lower than that in control group (15.8%).
APOE epsilon 4 allele may be a latent risk factor in the development of primary glaucoma, but APOE epsilon 2 allele may play a protective role in POAG and warrant further investigation.
分析载脂蛋白E(APOE)基因多态性与中国东北地区原发性开角型青光眼(POAG)和原发性闭角型青光眼(PACG)的相关性。
采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术检测36例POAG患者、69例PACG患者及57例健康对照者的APOE等位基因的基因型分布及基因频率。
POAG组中APOE ε3/ε4基因型频率(41.7%)及PACG组中APOE ε2/ε4基因型频率(43.5%)显著高于对照组(分别为14.0%和21.1%,P<0.05)。POAG组(37.5%)和PACG组(39.2%)的APOE ε4等位基因频率均显著高于对照组(17.5%,P<0.05),而POAG组APOE ε2等位基因频率(8.3%)显著低于对照组(15.8%,P<0.05)。
APOE ε4等位基因可能是原发性青光眼发病的潜在危险因素,而APOE ε2等位基因可能对POAG具有保护作用,值得进一步研究。