Wróbel-Dudzińska Dominika, Kosior-Jarecka Ewa, Łukasik Urszula, Kocki Janusz, Witczak Agnieszka, Mosiewicz Jerzy, Żarnowski Tomasz
Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Chmielna 1, 20-079 Lublin, Poland.
Department of Clinical Genetics, Medical University, Radziwiłłowska 11, 20-080 Lublin, Poland.
J Ophthalmol. 2015;2015:368792. doi: 10.1155/2015/368792. Epub 2015 Dec 1.
The aim of the research is to analyse the influence of polymorphisms of endothelin-1 gene and endothelin-1 receptor type A gene on the clinical condition of patients with primary open angle glaucoma. Methods. 285 Polish patients took part in the research (160 normal-tension glaucoma and 125 high-tension glaucoma). DNA was isolated by standard methods and genotype distributions of four polymorphisms in genes encoding endothelin-1 (K198N) and endothelin-1 receptor type A polymorphisms (C1222T, C70G, and G231A) were determined. Genotype distributions were compared between NTG and HTG groups. The clinical condition of participants was examined for association with polymorphisms. Results. A similar frequency of occurrence of the polymorphic varieties of the studied genes was observed in patients with NTG and HTG. There is no relation between NTG risk factors and examined polymorphisms. NTG patients with TT genotype of K198N polymorphism presented with the lowest intraocular pressure in comparison to GG + GT genotype (p = 0.03). In NTG patients with CC genotype of C1222T polymorphism (p = 0.028) and GG of C70G polymorphism (p = 0.03) the lowest values of mean blood pressure were observed. Conclusions. The studied polymorphic varieties (K198N, C1222T) do have an influence on intraocular pressure as well as arterial blood pressure in NTG patients.
该研究的目的是分析内皮素-1基因和A型内皮素-1受体基因多态性对原发性开角型青光眼患者临床状况的影响。方法。285名波兰患者参与了该研究(160例正常眼压性青光眼患者和125例高眼压性青光眼患者)。采用标准方法分离DNA,并确定内皮素-1基因(K198N)和A型内皮素-1受体基因多态性(C1222T、C70G和G231A)中四种多态性的基因型分布。比较了正常眼压性青光眼组和高眼压性青光眼组之间的基因型分布。检查了参与者的临床状况与多态性之间的关联。结果。在正常眼压性青光眼患者和高眼压性青光眼患者中观察到所研究基因的多态性变体出现频率相似。正常眼压性青光眼危险因素与所检查的多态性之间没有关系。与GG + GT基因型相比,K198N多态性TT基因型的正常眼压性青光眼患者眼压最低(p = 0.03)。在C1222T多态性CC基因型(p = 0.028)和C70G多态性GG基因型(p = 0.03)的正常眼压性青光眼患者中观察到平均血压最低值。结论。所研究的多态性变体(K198N、C1222T)确实对正常眼压性青光眼患者的眼压以及动脉血压有影响。