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微小RNA成熟成分的表达水平及多态性;Drosha、DGCR8和Dicer在白癜风患者中的诊断价值。

Expression levels and polymorphisms of the microRNA maturing components; diagnostic values of Drosha, DGCR8 and Dicer in patients with vitiligo.

作者信息

Aşır Soner, İzci Ay Özlem, Ertan Ay Mustafa, Çevik Kenan, Özdemir Gurbet Doğru, Türkegün Şengül Merve, Erdal Mehmet Emin, Türsen Ümit

机构信息

Mersin University, Faculty of Medicine, Department of Medical Biology and Genetics.

Alanya Alaaddin Keykubat University, Faculty of Medicine, Department of Biostatistics and Medical Informatics.

出版信息

Afr Health Sci. 2025 Jun;25(2):141-152. doi: 10.4314/ahs.v25i2.19.

Abstract

BACKGROUND AND OBJECTIVE

Even though the pathogenesis of vitiligo is still unclear, recent studies have suggested that miRNAs can contribute to the occurrence and progression of the disease. The aim of the present study was to investigate the associations between SNPs of miRNA processing genes and their expression levels with vitiligo susceptibility.

METHODS

55 patients and 56 controls were investigated for Dicer, Drosha, and DGCR8 gene expressions and genotyped for Drosha rs493760, DGCR8 rs1640299, and Dicer rs1057035 by real-time PCR. The correlation of the expression levels of these three genes was analyzed. The ROC curve was used to analyze their diagnostic efficacy for vitiligo.

RESULTS

The current findings showed that the Dicer CT genotype was more frequent in vitiligo (p=0.046) compared to controls, while Drosha and DGCR8 polymorphisms did not show significant associations. The relative expression levels of the three genes in vitiligo patients were significantly lower than those in the control group (p<0.05). The areas under the curves for Drosha, DGCR8, and Dicer were 0.969, 0.66, 0.67.

CONCLUSIONS

For the first time, we demonstrate that the Dicer rs1057035 polymorphism is associated with vitiligo susceptibility, and the downregulation of Drosha, DGCR8, and Dicer suggests their potential roles as biomarkers in the pathogenesis of vitiligo.

摘要

背景与目的

尽管白癜风的发病机制仍不清楚,但最近的研究表明,微小RNA(miRNA)可能与该疾病的发生和发展有关。本研究的目的是探讨miRNA加工基因的单核苷酸多态性(SNP)及其表达水平与白癜风易感性之间的关联。

方法

对55例患者和56例对照进行Dicer、Drosha和DGCR8基因表达检测,并通过实时聚合酶链反应(PCR)对Drosha rs493760、DGCR8 rs1640299和Dicer rs1057035进行基因分型。分析这三个基因表达水平的相关性。采用ROC曲线分析它们对白癜风的诊断效能。

结果

目前的研究结果表明,与对照组相比,白癜风患者中Dicer CT基因型更为常见(p=0.046),而Drosha和DGCR8多态性未显示出显著关联。白癜风患者中这三个基因的相对表达水平显著低于对照组(p<0.05)。Drosha、DGCR8和Dicer的曲线下面积分别为0.969、0.66、0.67。

结论

我们首次证明Dicer rs1057035多态性与白癜风易感性相关,Drosha、DGCR8和Dicer的下调表明它们在白癜风发病机制中作为生物标志物的潜在作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3529/12361973/e0e7cf727bf0/AFHS2502-0141Fig1.jpg

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