Nowak Alicja, Przybylowska-Sygut Karolina, Gacek Mira, Kaminska Anna, Szaflik Jacek P, Szaflik Jerzy, Majsterek Ireneusz
Department of Clinical Chemistry and Biochemistry, Medical University of Lodz , Poland and.
Ophthalmic Genet. 2015 Jun;36(2):105-12. doi: 10.3109/13816810.2013.838277. Epub 2013 Sep 27.
Glaucoma is characterized by optic neuropathy of the retinal ganglion cell. It may be possible that β-amyloid (Aβ) and apolipoprotein E (APOE), the main proteins of the pathogenesis of AD, play a role in glaucoma development. The aim of this study was to evaluate a relationship between the APP and APOE gene polymorphisms and the risk of primary open-angle glaucoma (POAG) occurrence.
The study consisted of 183 patients with POAG and 209 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.
We found a statistically significant increase of the -491 T allele frequency (p=0.02; OR=1.48; 95% CI=1.06-2.08) of APOE in POAG compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the APP polymorphism between patients and controls group. We also found an association between APOE polymorphic variant and retinal nerve fiber layer (RNFL). There was a statistically significant difference in the APOE gene A/T genotype frequency in the early POAG stage and middle-advanced POAG stage in comparison to the advanced POAG stage (p=0.04; OR=3.38; 95% CI=1.04-10.97).
The -491 T allele of APOE polymorphism may be associated with a risk of POAG occurrence in the Polish population.
青光眼以视网膜神经节细胞的视神经病变为特征。阿尔茨海默病（AD）发病机制的主要蛋白质β-淀粉样蛋白（Aβ）和载脂蛋白E（APOE）可能在青光眼的发展中起作用。本研究的目的是评估APP和APOE基因多态性与原发性开角型青光眼（POAG）发生风险之间的关系。
该研究包括183例POAG患者和209名健康受试者。从外周血中提取基因组DNA。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因多态性分析。
与健康对照组相比，我们发现POAG患者中APOE的-491T等位基因频率有统计学意义的增加（p=0.02；比值比[OR]=1.48；95%置信区间[CI]=1.06-2.08）。患者组和对照组之间APP多态性的基因型和等位基因分布及比值比没有差异。我们还发现APOE多态性变体与视网膜神经纤维层（RNFL）之间存在关联。与晚期POAG阶段相比，早期POAG阶段和中晚期POAG阶段的APOE基因A/T基因型频率有统计学意义的差异（p=0.04；OR=3.38；95%CI=1.04-10.97）。
在波兰人群中，APOE多态性的-491T等位基因可能与POAG的发生风险相关。
