Simionescu Ruxandra, Voinea Liliana, Cornăţeanu Roxana Sfrenţ
Oftalmologia. 2013;57(4):67-73.
Primary open angle glaucoma is a progressive optic neuropathy with multiple causative factors including genetic immune disregulation. TNF-alfa has pro-apoptotic effects on the retinal ganglion cells, thus being directly involved in the neurodegeneration of the optic nerve head. Our purpose was to investigate the influence on susceptibility and/or clinical and characteristics of TNF-alfa promoter polymorphism -857 C/T in Romanian patients diagnosed with POAG.
We assessed 159 Romanian subjects, 61 diagnosed with glaucoma (F/M 39/22) and 98 healthy unrelated matched controls-HC for the polymorphism -857 C/T, genotyped by Real Time PCR (Taqman SNP Genotyping Assay C_2215707_10, Applied Biosystems, USA). The diagnosis and the staging of the disease in the POAG group were assessed using the current guidelines. Association tests for the SNP were performed using SPSS 11.2 (Fisher test) and p values < or = 0.05 were considered significant.
The Hardy-Weinberg equilibrium assessed using Chi-square test was respected in both studied groups- POAG and HC (p = 0.000009 and respectively p = 0.04771). There was no association found between the frequencies of alleles between studied groups (CC/CT/TT= 0.81/0.09/0.08 respectively 0.70/0.23/0.06).
TNF-alfa promoter polymorphism -857 C/T doesn't seem to influence the susceptibility to POAG and the results should be confirmed on larger cohorts.
原发性开角型青光眼是一种具有多种致病因素（包括基因免疫失调）的进行性视神经病变。肿瘤坏死因子-α（TNF-α）对视网膜神经节细胞具有促凋亡作用，因此直接参与视神经乳头的神经变性。我们的目的是研究TNF-α启动子多态性-857 C/T对罗马尼亚被诊断为原发性开角型青光眼患者的易感性和/或临床及特征的影响。
我们评估了159名罗马尼亚受试者，其中61名被诊断为青光眼（女性/男性=39/22），98名健康无亲属关系的匹配对照者（HC），通过实时聚合酶链反应（Taqman SNP基因分型检测C_2215707_10，美国应用生物系统公司）对-857 C/T多态性进行基因分型。使用现行指南评估原发性开角型青光眼组疾病的诊断和分期。使用SPSS 11.2（费舍尔检验）对单核苷酸多态性进行关联测试，p值≤0.05被认为具有统计学意义。
使用卡方检验评估的哈迪-温伯格平衡在原发性开角型青光眼组和健康对照组中均得到满足（分别为p = 0.000009和p = 0.04771）。研究组之间等位基因频率没有关联（CC/CT/TT分别为0.81/0.09/0.08和0.70/0.23/0.06）。
TNF-α启动子多态性-857 C/T似乎不影响原发性开角型青光眼的易感性，结果应在更大的队列中得到证实。
