Analysis of microRNA-196a-2 rs11614913 and microRNA-499a rs3746444 polymorphisms in an Egyptian population with Behçet's Disease: A single-center case-control study

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-04-03 DOI:10.1016/j.genrep.2025.102217

Dina M.T. Koptan , Noha M. Shaheen , Reem J Farid , Nancy Mostafa Abouzaid , Riham S.H.M. Allam , Fatema T Elgengehy , Basma M Medhat , Noha M Abdel Baki

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引用次数: 0

Abstract

Aim

Single nucleotide polymorphisms can significantly influence the processing, expression, and maturation of microRNAs (miRNAs) and may also contribute to the pathogenesis of various diseases including Behçet's disease (BD). The present study aimed to investigate the association of mir-196a-2 rs11614913 (C/T) and mir-499a rs3746444 (A/G) polymorphisms with BD susceptibility, demographic characteristics, and clinical manifestations in a cohort of Egyptian patients.

Methods

We genotyped the polymorphisms in 68 Egyptian patients with BD and 128 healthy controls using TaqMan real-time polymerase chain reaction.

Results

Carriage of the combined mir-196a-2 rs11614913 TT and mir-499a rs3746444 AA genotypes conferred a 3-fold increased risk for BD development (p = 0.009). Carriers of the mir-196a-2 CT genotype developed BD at an older age compared to CC carriers (p = 0.03). The CC + CT genotypes of mir-196a-2 were more prevalent among patients with ocular involvement (p = 0.02), while the CT genotype was associated with an increased risk of neuro-BD (p = 0.02, OR = 3.3).

Conclusion

Our results suggest that the combined mir-196a-2 rs11614913 TT and mir-499a rs3746444 AA genotypes may be associated with an increased risk of BD, while mir-196a-2 rs11614913 genotypes may be linked to the age of BD onset and specific clinical manifestations. Further studies with larger cohorts are needed to confirm our findings.

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microRNA-196a-2 rs11614913和microRNA-499a rs3746444在埃及behalet病人群中的多态性分析：一项单中心病例对照研究

单核苷酸多态性可以显著影响microRNAs （miRNAs）的加工、表达和成熟，也可能参与包括behet病（BD）在内的多种疾病的发病机制。本研究旨在探讨mir-196a-2 rs11614913 （C/T）和mir-499a rs3746444 （A/G）多态性与埃及患者双相障碍易感性、人口学特征和临床表现的关系。方法采用TaqMan实时聚合酶链反应（TaqMan real-time polymerase chain reaction）对68例埃及BD患者和128名健康对照者的多态性进行基因分型。结果携带mir-196a-2 rs11614913 TT和mir-499a rs3746444 AA基因型的人患BD的风险增加了3倍（p = 0.009）。与CC携带者相比，mir-196a-2 CT基因型携带者患BD的年龄更大（p = 0.03）。mir-196a-2的CC + CT基因型在眼部受损伤患者中更为普遍（p = 0.02），而CT基因型与神经bd风险增加相关（p = 0.02, OR = 3.3）。结论我们的研究结果表明，mir-196a-2 rs11614913 TT和mir-499a rs3746444 AA基因型的组合可能与BD风险增加有关，而mir-196a-2 rs11614913基因型可能与BD发病年龄和特定临床表现有关。需要更大规模的进一步研究来证实我们的发现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.