Analysis of genetic polymorphism and expression of SOX2 in oral leukoplakia: a case-control study

IF 2 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2024-11-15 DOI:10.1016/j.oooo.2024.11.082

Suelen Teixeira Scheifer DDS, MSc, PhD , Arieli Carini Michels DDS, MSc, PhD , Filipe Modolo DDS, MSc, PhD , Emanuela Carla dos Santos DDS, MSc , Rafaela Scariot DDS, MSc, PhD , Maria Cassia Ferreira Aguiar DDS, MSc, PhD , Sergio Aparecido Ignácio B.Stat., MSc, PhD , Lucia de Noronha DDS, MSc, PhD , Laysa Toschi Martins DDS, MSc, PhD , Henrique Ravanhol Frigeri DDS, MSc, PhD , Cleber Machado de Souza DDS, MSc, PhD , Bruno Correia Jham DDS, MSc, PhD , Mariana Hornung Marins DDS , Aline Cristina Batista Rodrigues Johann DDS, MSc, PhD

{"title":"Analysis of genetic polymorphism and expression of SOX2 in oral leukoplakia: a case-control study","authors":"Suelen Teixeira Scheifer DDS, MSc, PhD , Arieli Carini Michels DDS, MSc, PhD , Filipe Modolo DDS, MSc, PhD , Emanuela Carla dos Santos DDS, MSc , Rafaela Scariot DDS, MSc, PhD , Maria Cassia Ferreira Aguiar DDS, MSc, PhD , Sergio Aparecido Ignácio B.Stat., MSc, PhD , Lucia de Noronha DDS, MSc, PhD , Laysa Toschi Martins DDS, MSc, PhD , Henrique Ravanhol Frigeri DDS, MSc, PhD , Cleber Machado de Souza DDS, MSc, PhD , Bruno Correia Jham DDS, MSc, PhD , Mariana Hornung Marins DDS , Aline Cristina Batista Rodrigues Johann DDS, MSc, PhD","doi":"10.1016/j.oooo.2024.11.082","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>To investigate the association of <em>SOX2</em> polymorphisms with oral leukoplakia with dysplasia (OLD) and compare it with the immunohistochemical expression of SOX-2.</div></div><div><h3>Methods</h3><div>The samples comprised 64 patients with oral leukoplakia and 20 with normal oral mucosa who were subjected to <em>SOX2</em> polymorphism rs77677339 genotyping by real-time polymerase chain reaction and immunohistochemistry for SOX-2 (basal epithelium expression, suprabasal and total; nuclear area and intensity). Statistical tests included the Chi-square and Fisher's exact tests.</div></div><div><h3>Results</h3><div>No significant difference was observed in genotype distribution between the OLD and control groups. The GG genotype (96.9%) was observed in the OLD group and 100% in the control group. The GA genotype was not observed in the control group. Statistical comparisons between the immunohistochemistry and genetic results were not statistically significant. No association was identified between rs77677339 and immunohistochemistry in OLD; however, the presence of allele A in heterozygotes with OLD suggests that this allele may serve as a risk marker.</div></div><div><h3>Conclusion</h3><div>The variant rs77677339 is localized in a region that contains different micro-RNA-binding sites, which can lead to changes in gene expression, contributing to OLD development through unclear molecular mechanisms. This study presents the preliminary results for this single nucleotide polymorphism in the literature.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"139 4","pages":"Pages 430-438"},"PeriodicalIF":2.0000,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2212440324008952","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose

To investigate the association of SOX2 polymorphisms with oral leukoplakia with dysplasia (OLD) and compare it with the immunohistochemical expression of SOX-2.

Methods

The samples comprised 64 patients with oral leukoplakia and 20 with normal oral mucosa who were subjected to SOX2 polymorphism rs77677339 genotyping by real-time polymerase chain reaction and immunohistochemistry for SOX-2 (basal epithelium expression, suprabasal and total; nuclear area and intensity). Statistical tests included the Chi-square and Fisher's exact tests.

Results

No significant difference was observed in genotype distribution between the OLD and control groups. The GG genotype (96.9%) was observed in the OLD group and 100% in the control group. The GA genotype was not observed in the control group. Statistical comparisons between the immunohistochemistry and genetic results were not statistically significant. No association was identified between rs77677339 and immunohistochemistry in OLD; however, the presence of allele A in heterozygotes with OLD suggests that this allele may serve as a risk marker.

Conclusion

The variant rs77677339 is localized in a region that contains different micro-RNA-binding sites, which can lead to changes in gene expression, contributing to OLD development through unclear molecular mechanisms. This study presents the preliminary results for this single nucleotide polymorphism in the literature.

查看原文本刊更多论文

口腔白斑SOX2基因多态性及表达分析：一项病例对照研究。

目的：探讨SOX2基因多态性与口腔白斑伴不典型增生（OLD）的关系，并与SOX2 -2的免疫组化表达进行比较。方法：选取64例口腔黏膜白斑患者和20例正常口腔黏膜患者，采用实时聚合酶链反应和免疫组化对SOX2多态性rs77677339进行基因分型，检测SOX2（基底上皮、基底上和总）表达；核面积和核强度)。统计检验包括卡方检验和费雪精确检验。结果：实验组与对照组基因型分布差异无统计学意义。OLD组为GG基因型（96.9%），对照组为100%。对照组未见GA基因型。免疫组化结果与遗传结果比较无统计学意义。未发现rs77677339与OLD患者的免疫组织化学相关；然而，等位基因A在OLD杂合子中的存在表明该等位基因可能作为风险标记。结论：变异rs77677339定位于含有不同微rna结合位点的区域，可导致基因表达的改变，通过不明确的分子机制促进OLD的发展。本研究在文献中介绍了这种单核苷酸多态性的初步结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Oral Surgery Oral Medicine Oral Pathology Oral Radiology DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.80

自引率

6.90%

发文量

1217

审稿时长

2-4 weeks

期刊介绍： Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology is required reading for anyone in the fields of oral surgery, oral medicine, oral pathology, oral radiology or advanced general practice dentistry. It is the only major dental journal that provides a practical and complete overview of the medical and surgical techniques of dental practice in four areas. Topics covered include such current issues as dental implants, treatment of HIV-infected patients, and evaluation and treatment of TMJ disorders. The official publication for nine societies, the Journal is recommended for initial purchase in the Brandon Hill study, Selected List of Books and Journals for the Small Medical Library.