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      Association Between the miR-100 rs1834306 A>G Polymorphism and Susceptibility to Venous Malformation

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          Abstract

          Background

          Venous malformation is related to genes and results in functional and morphologic anomalies. Genetic variations affecting the development of vessel endothelial cells are unclear. Therefore, this study aimed to investigate the potential value of the miR-100 rs1834306 A>G polymorphism as a marker of susceptibility to venous malformation.

          Methods

          In this case–control study in southern Chinese children, we collected blood samples from 1158 controls and 1113 patients with venous malformation. TaqMan genotyping of miR-100 rs1834306 A>G was performed by real-time fluorescent quantitative polymerase chain reaction.

          Results

          Multivariate logistic regression analysis showed that there was no significant association between the presence of the miR-100 rs1834306 A>G polymorphism and susceptibility to venous malformation by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different sites, rs1834306 A>G was also not associated with venous malformation.

          Conclusion

          Our results suggest that the miR-100 rs1834306 A>G polymorphism is not associated with susceptibility to venous malformation in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with venous malformations.

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          Most cited references39

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          Overview of microRNA biology.

          Ashley Mohr, Justin L. Mott (2015)
          In considering an overview of microRNA biology, it is useful to consider microRNAs as a part of cellular communication. At the simplest level, microRNAs act to decrease the expression of messenger RNAs that contain stretches of sequence complementary to the microRNA. This function can be likened to the function of endogenous or synthetic short interfering RNA. However, microRNA function is more complicated and nuanced than this "on-off" model would suggest. Further, many microRNA targets are themselves noncoding RNAs. In this review, the authors discuss the role of microRNAs in shaping the proteome of the cell in a way that is consistent with microRNA involvement in a highly regulated conversation, sensitive to outside influence and internal feedback.
          Article 0 comments Cited 321 times – based on 0 reviews     Review now
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            Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.

            Michel Wassef, Francine Blei, Denise Adams … (2015)
            Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification. The last classification (1997) stratified vascular lesions into vascular malformations and proliferative vascular lesions (tumors). However, additional disease entities have since been identified that are complex and less easily classified by generic headings, such as capillary malformation, venous malformation, lymphatic malformation, etc. We hereby present the updated official ISSVA classification of vascular anomalies. The general biological scheme of the classification is retained. The section on tumors has been expanded and lists the main recognized vascular tumors, classified as benign, locally aggressive or borderline, and malignant. A list of well-defined diseases is included under each generic heading in the "Simple Vascular Malformations" section. A short definition is added for eponyms. Two new sections were created: one dealing with the malformations of individually named vessels (previously referred to as "truncular" malformations); the second groups lesions of uncertain or debated nature (tumor versus malformation). The known genetic defects underlying vascular anomalies are included in an appendix. This classification is meant to be a framework, acknowledging that it will require modification as new scientific information becomes available.
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              Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

              Nisha Limaye, Vinciane Wouters, Melanie Uebelhoer … (2008)
              Germline substitutions in the endothelial cell tyrosine kinase receptor TIE2/TEK cause a rare inherited form of venous anomalies, mucocutaneous venous malformations (VMCM)1-4. We now identified a somatic 2nd hit causing loss-of-function of the receptor in a resected VMCM. We assessed for whether such localized, tissue-specific events play a role in the etiology of the far more common sporadic VM. Eight somatic TIE2 mutations were identified in lesions from 28 out of 57 patients (49.1%), not detected in their blood or in control tissues. The somatic mutations included a frequent L914F change, and a series of double-mutations that occurred in cis, all of which show ligand-independent hyperphosphorylation in vitro. When overexpressed in HUVECs, L914F showed abnormal localization and response to ligand, differing from wild-type and the common inherited R849W mutant, suggesting they may have distinct effects. The presence of the same mutations in multifocal VMs in two patients, suggests a common origin for the abnormal endothelial cells in the distant sites. In conclusion, these data illustrate that a sporadic disease may be explained by somatic changes in a gene causing rare, inherited forms, and pinpoint TIE2 pathways as potential therapeutic targets for VM.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Gen Med
                Journal ID (iso-abbrev): Int J Gen Med
                Journal ID (publisher-id): ijgm
                Title: International Journal of General Medicine
                Publisher: Dove
                ISSN (Electronic): 1178-7074
                Publication date (Electronic): 09 February 2024
                Publication date Collection: 2024
                Volume: 17
                Pages: 509-515
                Affiliations
                [1 ]Department of Interventional Radiology and Vascular Anomalies, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University , Guangzhou, Guangdong, 510623, People’s Republic of China
                Author notes
                Correspondence: Zhenyin Liu, Department of Interventional Radiology and Vascular Anomalies, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University , 9 Jinsui Road, Guangzhou, Guangdong, 510623, People’s Republic of China, Email zhenyin@gwcmc.org
                Author information
                http://orcid.org/0000-0002-4454-403X
                http://orcid.org/0009-0009-0468-4757
                Article
                Publisher ID: 441542
                DOI: 10.2147/IJGM.S441542
                PMC ID: 10864769
                PubMed ID: 38356685
                SO-VID: a20abe3b-5518-4b3e-932d-034ba5a62730
                Copyright © © 2024 Wu et al.
                License:

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                History
                Date received : 26 September 2023
                Date accepted : 03 February 2024
                Page count
                Figures: 0, Tables: 2, References: 39, Pages: 7
                Funding
                Funded by: Guangzhou Women and Children’s Medical Center Hospital Fund;
                This work was funded by Guangzhou Women and Children’s Medical Center Hospital Fund (No: IP-2019-015).
                Categories
                Subject: Original Research

                ScienceOpen disciplines: Medicine
                Keywords: vascular malformation,susceptibility,mir-100,polymorphism
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: vascular malformation, susceptibility, mir-100, polymorphism

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