Molasy Milena, Walczak Anna, Przybyłowska-Sygut Karolina, Szymanek Katarzyna, Szaflik Jerzy, Szaflik Jacek P, Majsterek Ireneusz
Klin Oczna. 2016;118(2):122-32.
To analyse the single nucleotide polymorphisms of DGCR8 and XPO5 genes, involved in miRNA processing pathway, in relation to the incidence of primary open-angle glaucoma.
Blood samples as the biological material used for the experiment were voluntarily donated by patients with known primary open-angle glaucoma and age-matched healthy controls. The two control groups – rs3757 DGCR8 and rs11077 XPO5 – consisted of 135 and 140 volunteers, respectively. The two study groups – rs3757 DGCR8 and rs11077 XPO5 – consisted of 137 and 138 subjects, respectively. The polymorphic variant frequencies of rs3757 and rs1107 were determined using DNA isolated from the peripheral blood lymphocytes in TaqMan® SNP Genotyping Assays.
The statistical analysis revealed that the genotype AG of DGCR8 rs3757 occurred more frequently in healthy individuals (P = 0.001), while homozygote GG was present mostly in people affected by primary open-angle glaucoma (P = 0.003). No association between the risk of primary open angle glaucoma and AC/CC genotypes of XPO5 was found.
Many reports suggest the association between the miRNA alteration and the pathogenesis of glaucoma. The single nucleotide polymorphisms in DGCR8 and XPO5 genes, involved in microRNA biogenesis, may be the key factor in this process. Our experiment showed that genotype AG in rs3757 DGCR8 exhibits protective effect, decreasing the risk of primary open angle glaucoma, while the homozygote GG is probably associated with increased risk of glaucoma. The analysis of polymorphic variants of the genes involved in miRNA biogenesis could enable identification of glaucoma high-risk groups.
分析参与微小RNA（miRNA）加工途径的DGCR8和XPO5基因的单核苷酸多态性与原发性开角型青光眼发病率的关系。
作为实验所用生物材料的血样由已知原发性开角型青光眼患者及年龄匹配的健康对照者自愿捐献。两个对照组——rs3757 DGCR8和rs11077 XPO5——分别由135名和140名志愿者组成。两个研究组——rs3757 DGCR8和rs11077 XPO5——分别由137名和138名受试者组成。采用TaqMan® SNP基因分型检测法，通过从外周血淋巴细胞中分离的DNA来测定rs3757和rs1107的多态性变体频率。
统计分析显示，DGCR8 rs3757的AG基因型在健康个体中出现频率更高（P = 0.001），而纯合子GG大多出现在原发性开角型青光眼患者中（P = 0.003）。未发现原发性开角型青光眼风险与XPO5的AC/CC基因型之间存在关联。
许多报告表明miRNA改变与青光眼发病机制之间存在关联。参与微小RNA生物合成的DGCR8和XPO5基因中的单核苷酸多态性可能是这一过程中的关键因素。我们的实验表明，rs3757 DGCR8中的AG基因型具有保护作用，可降低原发性开角型青光眼的风险，而纯合子GG可能与青光眼风险增加有关。对参与miRNA生物合成的基因多态性变体进行分析，有助于识别青光眼高危人群。
