The 3' UTR polymorphisms rs3742330 in DICER1 and rs10719 in DROSHA genes are not associated with primary open-angle and angle-closure glaucoma: As case-control study

Altaf A Kondkar; Taif A Azad; Tahira Sultan; Essam A Osman; Faisal A Almobarak; Glenn P Lobo; Saleh A Al-Obeidan

doi:10.1371/journal.pone.0284852

The 3' UTR polymorphisms rs3742330 in DICER1 and rs10719 in DROSHA genes are not associated with primary open-angle and angle-closure glaucoma: As case-control study

PLoS One. 2023 Apr 26;18(4):e0284852. doi: 10.1371/journal.pone.0284852. eCollection 2023.

Authors

Altaf A Kondkar^{1

2

3}, Taif A Azad¹, Tahira Sultan¹, Essam A Osman¹, Faisal A Almobarak^{1

2}, Glenn P Lobo⁴, Saleh A Al-Obeidan^{1

2}

Affiliations

¹ Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
² Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
³ King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
⁴ Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, United States of America.

Abstract

Aim: In a retrospective and exploratory case-control study, we examined the genetic association of two common polymorphisms in the 3' untranslated region (UTR) of DICER1 (rs3742330) and DROSHA (rs10719) genes in primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), and its related clinical phenotypes in a Saudi cohort.

Methods: DNA genotyping was performed using TaqMan real-time PCR assays in 500 participants, including 152 POAG, 102 PACG, and 246 non-glaucomatous controls. Statistical analyses were performed to examine the association(s).

Results: Allele and genotype frequency of rs3742330 and rs10719 did not vary significantly in POAG and PACG compared to controls. No significant deviation was observed from Hardy-Weinberg Equilibrium (p > 0.05). Gender stratification revealed no significant allelic/genotype association with glaucoma types. Also, these polymorphisms showed no significant genotype effect on clinical markers such as intraocular pressure, cup/disc ratio, and the number of antiglaucoma medications. Logistic regression showed no effect of age, sex, rs3742330, and rs10719 genotypes on the risk of disease outcome. We also examined a combined allelic effect of rs3742330 (A>G) and rs10719 (A>G). However, none of the allelic combinations significantly affected POAG and PACG.

Conclusions: The 3' UTR polymorphisms rs3742330 and rs10719 of DICER1 and DROSHA genes are not associated with POAG and PACG or its related glaucoma indices in this Middle-Eastern cohort of Saudi Arab ethnicity. However, there is a need to validate the results on a broader population and other ethnicities.

Copyright: © 2023 Kondkar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

3' Untranslated Regions / genetics
Case-Control Studies
DEAD-box RNA Helicases / genetics
Genetic Predisposition to Disease
Glaucoma, Angle-Closure* / genetics
Glaucoma, Open-Angle* / epidemiology
Glaucoma, Open-Angle* / genetics
Humans
Intraocular Pressure
Polymorphism, Single Nucleotide
Retrospective Studies
Ribonuclease III / genetics

Substances

3' Untranslated Regions
DICER1 protein, human
Ribonuclease III
DEAD-box RNA Helicases
DROSHA protein, human

Grants and funding

This work was supported by King Saud University through the Vice Deanship of Scientific Research Chair and Glaucoma Research Chair in Ophthalmology. The funders had no role in study design, data collection, analysis, publication decision, or manuscript preparation.