The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma

Milena Molasy; Anna Walczak; Karolina Przybyłowska-Sygut; Katarzyna Szymanek; Jerzy Szaflik; Jacek P. Szaflik; Ireneusz Majsterek

doi:10.5114/ko.2016.71686

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Klinika Oczna / Acta Ophthalmologica Polonica

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2/2016
vol. 118

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abstract:

Original paper

The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma

Milena Molasy

¹

,

Anna Walczak

¹

,

Karolina Przybyłowska-Sygut

¹

,

Katarzyna Szymanek

²

,

Jerzy Szaflik

²

,

Jacek P. Szaflik

³

,

Ireneusz Majsterek

¹

Zakład Chemii i Biochemii Klinicznej, Wydział Wojskowo-Lekarski Uniwersytetu Medycznego w Łodzi
Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego

DOI: https://doi.org/10.5114/ko.2016.71686

Online publish date: 2017/11/29

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AMA

Molasy M, Walczak A, Przybyłowska-Sygut K, et al. The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma. Klinika Oczna / Acta Ophthalmologica Polonica. 2016;118(2):122-126. doi:10.5114/ko.2016.71686.

APA

Molasy, M., Walczak, A., Przybyłowska-Sygut, K., Szymanek, K., Szaflik, J.,  & Szaflik, J. et al. (2016). The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma. Klinika Oczna / Acta Ophthalmologica Polonica, 118(2), 122-126. https://doi.org/10.5114/ko.2016.71686

Chicago

Molasy, Milena, Anna Walczak, Karolina Przybyłowska-Sygut, Katarzyna Szymanek, Jerzy Szaflik, Jacek P. Szaflik,  and Ireneusz Majsterek. 2016. "The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma". Klinika Oczna / Acta Ophthalmologica Polonica 118 (2): 122-126. doi:10.5114/ko.2016.71686.

Harvard

Molasy, M., Walczak, A., Przybyłowska-Sygut, K., Szymanek, K., Szaflik, J., Szaflik, J.,  and Majsterek, I. (2016). The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma. Klinika Oczna / Acta Ophthalmologica Polonica, 118(2), pp.122-126. https://doi.org/10.5114/ko.2016.71686

MLA

Molasy, Milena et al. "The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma." Klinika Oczna / Acta Ophthalmologica Polonica, vol. 118, no. 2, 2016, pp. 122-126. doi:10.5114/ko.2016.71686.

Vancouver

Molasy M, Walczak A, Przybyłowska-Sygut K, Szymanek K, Szaflik J, Szaflik J et al. The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma. Klinika Oczna / Acta Ophthalmologica Polonica. 2016;118(2):122-126. doi:10.5114/ko.2016.71686.

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Purpose
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.

Material and methods
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.

Results
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.

Conclusions
Many reports suggest the association between the miRNA alteration and the pathogenesis of glaucoma. The single nucleotide polymorphisms in DGCR8 and XPO5genes, 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.

keywords:

The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma

Milena Molasy 1 , Anna Walczak 1 , Karolina Przybyłowska-Sygut 1 , Katarzyna Szymanek 2 , Jerzy Szaflik 2 , Jacek P. Szaflik 3 , Ireneusz Majsterek 1

primary-open angle glaucoma (POAG), DGCR8, XPO5, single nucleotide polymorphism, miRNA

Milena Molasy

¹

,

Anna Walczak

¹

,

Karolina Przybyłowska-Sygut

¹

,

Katarzyna Szymanek

²

,

Jerzy Szaflik

²

,

Jacek P. Szaflik

³

,

Ireneusz Majsterek

¹