DROSHA rs10719 and DICER1 rs3742330 polymorphisms in endometriosis and different diseases: Case-control and review studies.

Cardoso, Jéssica Vilarinho; Medeiros, Rui; Dias, Francisca; Costa, Isabelle Alves; Ferrari, Renato; Berardo, Plínio Tostes; Perini, Jamila Alessandra

doi:10.1016/j.yexmp.2021.104616

Cited by 11 publications

(7 citation statements)

References 57 publications

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“…Emerging evidence suggests that polymorphism(s) in DICER1 may alter the biological functions of miRNAs and play an essential role in the pathogenesis of various diseases [ 16 , 17 , 18 , 19 ]. In accordance with our findings, Chatzikyriakidou et al reported a different DICER1 variant, rs1057035 (C>T), which conferred protection (OR of 0.69) in patients with pseudoexfoliation syndrome [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…Two commonly investigated variants affecting the miRNA binding and mRNA stability, expression, and function include rs10719 G > A in DROSHA and rs3742330 A > G in DICER1 , located in the 3′ UTRs of their respective genes. These polymorphisms have been associated with several complex human diseases, including glaucoma [ 7 , 16 , 17 , 18 , 19 ]. We hypothesize that these polymorphisms via miRNA regulation of mRNA stability or translational repression might trigger downstream changes to influence disease processes (e.g., extracellular matrix (ECM) remodeling and trabecular meshwork (TM) homeostasis) involved in PXG pathogenesis [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Polymorphism rs3742330 in microRNA Biogenesis Gene DICER1 Is Associated with Pseudoexfoliation Glaucoma in Saudi Cohort

Kondkar

Azad

Sultan

et al. 2022

Genes

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We investigated the association between DICER1 (rs3742330) and DROSHA (rs10719) polymorphisms and pseudoexfoliation glaucoma (PXG) and related clinical phenotypes in a Saudi cohort. In a retrospective case-control study, TaqMan real-time, PCR-based genotyping was performed in 340 participants with 246 controls and 94 PXG cases. The minor (G) allele frequency of rs3742330 in PXG (0.03) was significantly different from that in the controls (0.08) and protective against PXG (odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.16–0.92), p = 0.017). Similarly, the rs3742330 genotypes showed a significant protective association with PXG in dominant (p = 0.019, OR = 0.38, 95% CI = 0.15–0.92), over-dominant (p = 0.024, OR = 0.39, 95% CI = 0.16–0.95), and log-additive models (p = 0.017, OR = 0.38, 95% CI = 0.16–0.92). However, none remained significant after an adjustment for age, sex, and multiple testing. Rs10719 in DROSHA did not show any significant allelic or genotype association with PXG. However, a protective effect of the GA haplotype in DICER1 and DROSHA and PXG (p = 0.034) was observed. Both polymorphisms showed no significant effect on intraocular pressure and the cup–disk ratio. In conclusion, we report a significant genetic association between variant rs3742330 in DICER1, a gene involved in miRNA biogenesis, and PXG. Further investigation in a larger group of patients of different ethnicities and functional studies are warranted to replicate and validate its potential role in PXG.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Polymorphism rs3742330 in microRNA Biogenesis Gene DICER1 Is Associated with Pseudoexfoliation Glaucoma in Saudi Cohort

Kondkar

Azad

Sultan

et al. 2022

Genes

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“…From the genetic susceptibility point of view, some studies identified an association between Drosha and/or Dicer polymorphisms and the risk of endometriosis ( 33 ) and recurrent spontaneous abortion ( 34 ), conditions known to be associated with adenomyosis ( 35 ). Another hypothesis - although it is not safe to use it to explain the variation in the expression of these proteins in adenomyosis specimens - is the involvement of proteins p53, p63, and p73.…”

Section: Discussionmentioning

confidence: 99%

Immunohistochemical expression of Drosha is reduced in eutopic and ectopic endometrium of women with adenomyosis

Ormenezi

Ribeiro‐Silva

Silva

et al. 2022

Braz J Med Biol Res

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The objective of this study was to evaluate the immunohistochemical expression of Dicer, Drosha, and Exportin-5 in the eutopic and ectopic endometrium of women with adenomyosis. Twenty-two paired ectopic and eutopic endometrium from women with adenomyosis and 10 eutopic endometrium samples from control women undergoing hysterectomy were included in the study. Paraffin-embedded tissue blocks were cut and stained for immunohistochemistry. The percentage of epithelial cells positively marked was identified digitally after an automated slide scanning process. Mann-Whitney test or Wilcoxon signedrank test was performed for independent and paired groups, respectively. A lower expression of Drosha was observed in the eutopic endometrium of women with adenomyosis than in the eutopic endometrium of women without the disease (69.9 ± 3.4% vs 85.2±2.9%, respectively) (P=0.016; 95%CI: 3.4 to 27.4%). We also detected lower Drosha expression in the ectopic endometrium of women with adenomyosis than in the eutopic endometrium of the same women (59.6 ± 3.2% vs 69.9 ± 3.4%, respectively) (P=0.004; 95%CI: 2.3 to 16.7%). Additionally, we observed a correlation between Drosha expression in the ectopic and paired eutopic endometrium (P=0.034, rho=0.454). No significant difference in Dicer or Exportin expression was observed. Predominant pattern of cytoplasmic staining for the anti-Drosha antibody and both a nuclear and cytoplasmic pattern for the anti-Exportin antibody were observed. Drosha expression was significantly lower in the endometrium of women with adenomyosis compared to the eutopic endometrium of asymptomatic women without the disease. Furthermore, its expression was lower in the ectopic endometrium but correlated to the paired eutopic endometrium.

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“…Deletion of DROSHA and DICER in human cell lines completely abolished or markedly reduced miRNA production in the canonical pathway [52]. Emerging evidence suggests that polymorphism(s) in these genes (DICER1 and DROSHA) may alter the biological functions of miRNAs and contribute to the pathogenesis of various systemic and neurodegenerative diseases [37][38][39]53,54]. miRNAs exhibit tissuespecific expression and are known to express in glaucoma-related ocular tissues [55].…”

Section: Plos Onementioning

confidence: 99%

“…The region may be necessary for miRNA binding, transcription factor binding, DNA methylation, and histone modification, suggesting that these genes might have critical regulatory functions [26][27][28] (S1 Fig) . Interestingly, these polymorphisms have been reported to result in aberrant expression of these enzymes [29][30][31][32] that may alter miRNA expression in the cells [33,34], thus affecting the expression of corresponding genes and thereby deregulating downstream mechanisms/pathways that control cellular functions and have pathological consequences [29,35,36] (S2 Fig) . Moreover, these polymorphisms have also been previously associated with several complex human diseases. These include hypertension, endometriosis, cancer, atherosclerosis, Parkinson's, and pseudoexfoliation glaucoma [37][38][39][40][41][42][43].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2023

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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.

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DROSHA rs10719 and DICER1 rs3742330 polymorphisms in endometriosis and different diseases: Case-control and review studies.

Cited by 11 publications

References 57 publications

Polymorphism rs3742330 in microRNA Biogenesis Gene DICER1 Is Associated with Pseudoexfoliation Glaucoma in Saudi Cohort

Polymorphism rs3742330 in microRNA Biogenesis Gene DICER1 Is Associated with Pseudoexfoliation Glaucoma in Saudi Cohort

Immunohistochemical expression of Drosha is reduced in eutopic and ectopic endometrium of women with adenomyosis

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

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