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Association of micro RNA DGCR 8 and XPO 5 gene polymorphisms with the risk of primary open angle glaucoma occurrence
Author(s) -
Szaflik J.P.,
Majsterek I.,
Molasy M.,
Walczak A.,
PrzybylowskaSygut K.,
Szymanek K.,
Szaflik J.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0489
Subject(s) - microrna , single nucleotide polymorphism , glaucoma , genotype , open angle glaucoma , snp , pathogenesis , genotyping , gene , snp genotyping , biology , bioinformatics , medicine , genetics , ophthalmology
Purpose Many reports suggest the correlation between altered micro RNA level and the pathogenesis of glaucoma. It is suspected that disruption in micro RNA processing machinery may influence micro RNA s action. The single nucleotide polymorphisms in genes DGCR 8 and XPO 5 , which are involved in micro RNA biogenesis may be the key factor in this process. Methods The blood samples of 80 patients affected by primary open angle glaucoma and 250 age matched controls were enrolled to this study. The DNA was isolated from the peripheral blood lymphocytes. The polymorphic variant frequencies of DGCR 8 (rs 3757) and XPO 5 (rs 1107) genes were determined using TaqMan ® SNP Genotyping Assays. Results The statistical analysis revealed that the polymorphism of DGCR 8 gene did not affect to the risk of primary open angle glaucoma. While, the TT genotype of XPO 5 was found to be present mainly in patients not affected by glaucoma (P=0.049746). Conclusions In conclusion, it was evaluated that the TT genotype of XPO 5 gene might have protective effect on the risk of primary open angle glaucoma. Therefore, future analysis of polymorphic variants of genes involved in micro RNA biogenesis could be used for patient's diagnosis according to glaucoma occurence.