Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
PLoS One. 2023 Apr 26;18(4):e0284852. doi: 10.1371/journal.pone.0284852. eCollection 2023.
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.
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).
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.
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.
在一项回顾性和探索性病例对照研究中，我们研究了 DICER1（rs3742330）和 DROSHA（rs10719）基因 3'非翻译区（UTR）中的两个常见多态性与原发性开角型青光眼（POAG）和原发性闭角型青光眼（PACG）的遗传关联及其在沙特队列中的相关临床表型。
在 500 名参与者中，使用 TaqMan 实时 PCR 检测进行 DNA 基因分型，包括 152 名 POAG、102 名 PACG 和 246 名非青光眼对照者。进行统计分析以检查关联。
与对照组相比，POAG 和 PACG 中 rs3742330 和 rs10719 的等位基因和基因型频率没有显着差异。未观察到 Hardy-Weinberg 平衡显着偏离（p>0.05）。性别分层显示，这些多态性与青光眼类型无显着的等位基因/基因型关联。此外，这些多态性对眼压、杯/盘比和抗青光眼药物数量等临床标志物的基因型没有显着影响。Logistic 回归显示年龄、性别、rs3742330 和 rs10719 基因型对疾病结果的风险没有影响。我们还检查了 rs3742330（A>G）和 rs10719（A>G）的联合等位基因效应。然而，没有一种等位基因组合显着影响 POAG 和 PACG。
DICER1 和 DROSHA 基因的 3'UTR 多态性 rs3742330 和 rs10719 与中东沙特阿拉伯人群中的 POAG 和 PACG 或其相关青光眼指数无关。然而，需要在更广泛的人群和其他种族中验证这些结果。
