Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma

Mohammadpour‐Gharehbagh, Abbas; Heidari, Zahra; Eskandari, Moein; Aryan, A; Salimi, Saeedeh

doi:10.1007/s12253-019-00688-z

Cited by 13 publications

(5 citation statements)

References 32 publications

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“…This variant has shown a negative association with the development of multiple sclerosis (Basak et al, 2022), recurrent implantation failure (Lee et al, 2020), venous thromboembolism (Ko et al, 2019), pregnancy‐induced hypertension (Huang et al, 2019), and type 2 diabetes mellitus and its vascular complications (Wen et al, 2019). Conversely, this genetic variant has shown associations with endometriosis (Cardoso et al, 2021), recurrent spontaneous abortion (Ghasemi et al, 2020), dermatomyositis (Peng et al, 2023), end‐stage renal disease (Fawzy et al, 2020), papillary thyroid carcinoma (Mohammadpour‐Gharehbagh et al, 2020), colorectal cancer risk (Kim et al, 2019), pseudoexfoliation glaucoma (Kondkar et al, 2022), primary open‐angle and angle‐closure glaucoma (Kondkar et al, 2023), and pregnancy‐induced hypertension (Khabour et al, 2023) (as outlined in Table 5).…”

Section: Discussionmentioning

confidence: 99%

“…The majority of miRNAs attach to the 3 0 untranslated region (3 0 UTR) of their target messenger RNA, leading to either its degradation or the inhibition of its translation (Huang et al, 2018). These molecular entities are posited to be ubiquitous participants in diverse biological processes, encompassing cell proliferation, differentiation, metabolic activities, developmental processes, and apoptosis (Mohammadpour-Gharehbagh et al, 2020).The activity of specific miRNAs is believed to influence around 30% of human genes. Consequently, disruptions in the biogenesis of these miRNAs could constitute a substantial pathological element (Basak et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

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Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study

Rania,

Djalila,

Brahim

et al. 2024

Birth Defects Research

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BackgroundHypospadias continues to be a prevalent congenital anomaly affecting the male external genitalia, characterized by an unclear origin and complex treatment approaches. This study aimed to investigate the risk factors associated with hypospadias and explore its genetic link with the DICER1 rs3742330 variant.MethodsThe study involved two groups: 105 male children with hypospadias and 111 healthy male children as matched controls. Detailed history and physical examinations were conducted for all patients and controls. PCR‐restriction fragment length polymorphism was utilized to identify the DICER1 rs3742330 variant, analyzing genotype distribution and allele frequency. Logistic regression analysis estimated the risk factors for hypospadias.ResultsThe mean age in the hypospadias group was 4.56 ± 2.50 years. The most prevalent type of hypospadias observed was the anterior type in 60 children (57.14%). Intrauterine growth restriction, advanced maternal age, and gestational hypertension were identified as significant risk factors for hypospadias (p = .011, p = .016, and p = .041, respectively). Regarding the genetic study, no significant difference was found in both genotype and allele frequencies of the DICER1 rs3742330 variant between case and control groups.ConclusionsThe rs3742330 variant in the DICER1 gene showed no association with hypospadias cases in the Algerian population. However, multivariate logistic regression analysis identified preterm birth, low birth weight, intrauterine growth restriction, advanced maternal age, gestational diabetes, and rural residence as the most significant independent predictors for hypospadias.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study

Rania,

Djalila,

Brahim

et al. 2024

Birth Defects Research

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“…Our results revealed that carrying one DICER1 rs3742330*G allele conferred protection against developing ESRD. Although up to the authors’ knowledge, there are no similar published reports, and emerging evidence shows that DICER1 rs3742330 variant may alter its biologic functions and play essential roles in the susceptibility/protection for various diseases and cancers 36‐42 …”

Section: Discussionmentioning

confidence: 99%

“…Although up to the authors' knowledge, there are no similar published reports, and emerging evidence shows that DICER1 rs3742330 variant may alter its biologic functions and play essential roles in the susceptibility/protection for various diseases and cancers. [36][37][38][39][40][41][42] According to 43 the DICER1 rs1057035/rs13078/rs3742330 variants was reported to be associated with increased risk of gestational hypertension, 46 while the A-A haplotype of DICER1 rs13078 and rs3742330 were associated with a protective effect on type 2 diabetes mellitus compared with the A-T haplotype. 47 All these findings can support, in part, the observed association of DICER1 variant with ESRD development in the study population.…”

Section: Ta B L Ementioning

confidence: 99%

Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end‐stage renal disease

Fawzy

AlSel

Toraih

2020

Clinical Laboratory Analysis

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“…Similarly, mutations (rs640831 C/A, rs1110386 G/Aa, rs486732 C/Aa, p.E500, p.R277C, p.Q136a) in RNASEN/DROSHA, a member of the nuclear microprocessing complex and a ribonuclease that cleaves pir-miRNA to pre-miRNAs have been linked to several human cancers including lung adenocarcinoma, ovarian cancer, bladder cancer, breast cancer, thyroid carcinoma, and pineoblastoma [136][137][138][139][140][141].…”

Section: Oncogenic Mutations In Key Factors Involved In the Mirna Bio...mentioning

confidence: 99%

Circulating microRNAs as Potential Biomarkers in Pancreatic Cancer—Advances and Challenges

Seyhan

2023

IJMS

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There is an urgent unmet need for robust and reliable biomarkers for early diagnosis, prognosis, and prediction of response to specific treatments of many aggressive and deadly cancers, such as pancreatic cancer, and liquid biopsy-based miRNA profiling has the potential for this. MiRNAs are a subset of non-coding RNAs that regulate the expression of a multitude of genes post-transcriptionally and thus are potential diagnostic, prognostic, and predictive biomarkers and have also emerged as potential therapeutics. Because miRNAs are involved in the post-transcriptional regulation of their target mRNAs via repressing gene expression, defects in miRNA biogenesis pathway and miRNA expression perturb the expression of a multitude of oncogenic or tumor-suppressive genes that are involved in the pathogenesis of various cancers. As such, numerous miRNAs have been identified to be downregulated or upregulated in many cancers, functioning as either oncomes or oncosuppressor miRs. Moreover, dysregulation of miRNA biogenesis pathways can also change miRNA expression and function in cancer. Profiling of dysregulated miRNAs in pancreatic cancer has been shown to correlate with disease diagnosis, indicate optimal treatment options and predict response to a specific therapy. Specific miRNA signatures can track the stages of pancreatic cancer and hold potential as diagnostic, prognostic, and predictive markers, as well as therapeutics such as miRNA mimics and miRNA inhibitors (antagomirs). Furthermore, identified specific miRNAs and genes they regulate in pancreatic cancer along with downstream pathways can be used as potential therapeutic targets. However, a limited understanding and validation of the specific roles of miRNAs, lack of tissue specificity, methodological, technical, or analytical reproducibility, harmonization of miRNA isolation and quantification methods, the use of standard operating procedures, and the availability of automated and standardized assays to improve reproducibility between independent studies limit bench-to-bedside translation of the miRNA biomarkers for clinical applications. Here I review recent findings on miRNAs in pancreatic cancer pathogenesis and their potential as diagnostic, prognostic, and predictive markers.

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Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma

Cited by 13 publications

References 32 publications

Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study

Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study

Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end‐stage renal disease

Circulating microRNAs as Potential Biomarkers in Pancreatic Cancer—Advances and Challenges

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