我国东北地区原发性青光眼与转脂蛋白E基因多态性研究

A study on the association of apolipoprotein E genotypes with primary open-angle glaucoma and primary angle-closure glaucoma in northeast of China

目的研究我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）患者与转脂蛋白E（APOE）基因之间的相关性。方法应用聚合酶链式反应扩增技术（PCR）和限制性片段长度多态性技术（RFLP）对36例POAG、69例PACG患者及57例对照者的APOE基因进行分型，分别计算各组APOE等位基因、基因型频率。结果POAG的ε3／ε4、PACG的ε2／ε4基因型频率（分别为41．7％、43．5％）明显高于对照组（分别为14．0％、21．1％，P〈0．05）；POAG和PACG组APOE的84等位基因频率（分别为37．5％、39．2％）明显高于对照组（17．5％，P〈0．05），POAG组的82等位基因频率（8．3％）明显低于对照组（15．8％，P〈0．05）。结论APOE的84等位基因可能是原发性青光眼患者发病的危险因子，82等位基因对POAG的发生可能具有一定的保护作用.

Objective 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. Method 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. Results The frequency of APOE ε3/ε4 genotype in POAG group（41.7% ） and ε2/ε4 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 ε4 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 ε2 allele in POAG group（ 8. 3% ） was significantly（ P 〈 0. 05 ） lower than that in control group（ 15. 8% ）. Conclusion APOE ε4 allele may be a latent risk factor in the development of primary glaucoma, but APOE ε2 allele may play a protective role in POAG and warrant further investigation.