Molasy Milena, Walczak Anna, Przybyłowska-Sygut Karolina, Zaleska-Żmijewska Anna, Szaflik Jerzy, Szaflik Jacek P, Majsterek Ireneusz
a Department of Clinical Chemistry and Biochemistry, Faculty of Medicine , Medical University of Lodz , Lodz , Poland.
b Department of Ophthalmology, SPKSO Ophthalmic Hospital , Medical University of Warsaw , Warsaw , Poland.
Ophthalmic Genet. 2018 Apr;39(2):180-188. doi: 10.1080/13816810.2017.1381978. Epub 2017 Nov 2.
Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) and GEMIN3 (rs197388), and their association with a risk of primary open-angle glaucoma (POAG) in relation to selected clinical parameters.
The study included 246 POAG patients and 188 controls. The selected gene polymorphisms were analyzed by TaqMan SNP Genotyping Assay using DNA extracted from blood samples.
The obtained results indicated that the AA genotype of rs197388 as well as the A allele in the same gene may be associated with an elevated risk of POAG development (P = 0.021, P = 0.017 respectively). The correlation between the data and clinical parameters has shown that the A allele of rs197388 in relation to retinal nerve fiber layer(RNFL) could be responsible for an increased risk of glaucoma occurrence (P = 0.028), while the AT genotype could be associated with a decreased risk of POAG according to the mean deviation parameter (P = 0.023).
Our data has shown that GEMIN3 gene (rs197388) polymorphisms might be associated with a risk of POAG development in the Polish population. This is the first report evaluating the polymorphic variants of miRNA processing genes, RAN and GEMIN3, with a changed risk of glaucoma.
青光眼被认为是一种神经退行性疾病，其中视神经损伤会导致不可逆的失明。许多科学发现表明miRNA参与了神经退行性变过程。在本研究中，我们旨在评估miRNA加工基因RAN（rs14035）和GEMIN3（rs197388）的多态性变体，以及它们与原发性开角型青光眼（POAG）风险的关联，并结合选定的临床参数进行分析。
该研究纳入了246例POAG患者和188例对照。使用从血样中提取的DNA，通过TaqMan SNP基因分型检测法分析选定的基因多态性。
所得结果表明，rs197388的AA基因型以及同一基因中的A等位基因可能与POAG发生风险升高有关（分别为P = 0.021，P = 0.017）。数据与临床参数之间的相关性表明，rs197388的A等位基因与视网膜神经纤维层（RNFL）相关，可能导致青光眼发生风险增加（P = 0.028），而根据平均偏差参数，AT基因型可能与POAG风险降低有关（P = 0.023）。
我们的数据表明，GEMIN3基因（rs197388）多态性可能与波兰人群中POAG的发生风险有关。这是第一份评估miRNA加工基因RAN和GEMIN3的多态性变体与青光眼风险变化关系的报告。
