Kosior-Jarecka Ewa, Łukasik Urszula, Wróbel-Dudzińska Dominika, Kocki Janusz, Bartosińska Joanna, Witczak Agnieszka, Chodorowska Grażyna, Mosiewicz Jerzy, Żarnowski Tomasz
Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
Department of Clinical Genetics, Medical University, Lublin, Poland.
PLoS One. 2016 Jan 25;11(1):e0147540. doi: 10.1371/journal.pone.0147540. eCollection 2016.
The purpose of this study was to evaluate the influence of polymorphisms of the eNOS gene on the clinical status of patients with normal and high tension glaucoma.
266 Polish Caucasian patients with primary open angle glaucoma were studied. Of the 266, 156 had normal tension glaucoma (NTG) and 110 high tension glaucoma (HTG). DNA material was isolated from peripheral venous blood using commercial kits. Real-time PCR reaction was used to amplify the promoter site of the endothelial nitric oxide synthase (eNOS) gene, including the single nucleotide polymorphism (SNP) site T-786C and part of the 7th exon of eNOS, including G894T SNP. Genotypes were determined with TaqMan SNP Genotyping Assays.
There were no significant differences in frequencies of the allelic variants of both polymorphisms. In G894T SNP, however, the wild GG form was more common in the HTG group. The SNP of the eNOS gene did not significantly influence the progression rate in either of the groups studied. There were no differences in variants of the eNOS gene regarding the necessity for and success of surgery and the progression of the disease. In the NTG group, no statistical correlation was observed between G894T, T786C polymorphism variants, and risk factors such as optic disc haemorrhages, optic disc notches, and peripapillary atrophy. Mean diastolic and systolic pressure during the day and night were lowest in NTG patients with the CC variant of the T786C polymorphism. No statistical correlation was observed between the G894T and T786C polymorphisms and capillaroscopic examination results.
Genotype frequencies are similar for both the eNOS G894T and T-786C polymorphisms in NTG and HTG patients. These polymorphisms do not correlate with risk factors and do not influence the state of the capillary system in NTG patients. Systolic blood pressure is lower in NTG patients with mutated alleles of both polymorphisms.
本研究旨在评估内皮型一氧化氮合酶(eNOS)基因多态性对正常眼压性青光眼和高眼压性青光眼患者临床状态的影响。
对266例波兰白种原发性开角型青光眼患者进行研究。其中156例为正常眼压性青光眼(NTG),110例为高眼压性青光眼(HTG)。使用商业试剂盒从外周静脉血中分离DNA材料。采用实时PCR反应扩增内皮型一氧化氮合酶(eNOS)基因的启动子区域,包括单核苷酸多态性(SNP)位点T-786C以及eNOS第7外显子的部分区域,包括G894T SNP。通过TaqMan SNP基因分型检测确定基因型。
两种多态性的等位基因变体频率无显著差异。然而,在G894T SNP中,野生型GG形式在HTG组中更为常见。eNOS基因的SNP对所研究的两组患者的病情进展率均无显著影响。eNOS基因变体在手术必要性、成功率及疾病进展方面无差异。在NTG组中,未观察到G894T、T786C多态性变体与视盘出血、视盘切迹和视乳头周围萎缩等危险因素之间存在统计学相关性。T786C多态性CC变体的NTG患者白天和夜间的平均舒张压和收缩压最低。未观察到G894T和T786C多态性与毛细血管镜检查结果之间存在统计学相关性。
NTG和HTG患者中eNOS G894T和T-786C多态性的基因型频率相似。这些多态性与危险因素无关,且不影响NTG患者的毛细血管系统状态。两种多态性突变等位基因的NTG患者收缩压较低。