口腔疣状增生恶性转化的全基因组关联研究。

IF 2.9 3区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Oral diseases Pub Date : 2025-07-23 DOI:10.1111/odi.70037

Yusuf Maulana, Ming-Heng Wu, Wei-Fan Chiang, Wei-Pin Hsiao, Ling-Cheng Mong, Wen-Chang Wang

{"title":"口腔疣状增生恶性转化的全基因组关联研究。","authors":"Yusuf Maulana, Ming-Heng Wu, Wei-Fan Chiang, Wei-Pin Hsiao, Ling-Cheng Mong, Wen-Chang Wang","doi":"10.1111/odi.70037","DOIUrl":null,"url":null,"abstract":"Objective: We conducted a genome-wide association study (GWAS) to identify single-nucleotide polymorphisms (SNPs) associated with malignant transformation in oral verrucous hyperplasia (OVH) patients.Methods: The genomic DNA used for SNP genotyping was extracted from the buffy coat. The primary trait of the GWAS was cancer-free survival, defined as beginning at the initial OVH diagnosis and ending at the first diagnosis of oral cancer, loss to follow-up, or the end of follow-up, whichever occurred first. For each SNP, the distributions of cancer-free survival were compared between minor allele carriers and non-carriers using the log-rank test, and an SNP with a significant difference was considered to be associated with OVH malignant transformation.Results: The GWAS identified seven genome-wide significantly associated SNPs (p < 10-7). Among them, four are located in long non-coding RNA genes (STX18-AS1, TARID, LOC124903183, and GNAO1-DT), two are located in protein-coding genes (LIMCH1 and ZBTB44), and the remaining one is located in a non-coding RNA gene (LOC105375416). For each SNP, the minor allele was associated with a higher risk of malignant transformation.Conclusions: This pilot GWAS suggests genetic contributions to OVH malignant transformation. These findings warrant validation in larger samples and replication across diverse populations in future studies.","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Pilot Genome-Wide Association Study of Malignant Transformation of Oral Verrucous Hyperplasia.\",\"authors\":\"Yusuf Maulana, Ming-Heng Wu, Wei-Fan Chiang, Wei-Pin Hsiao, Ling-Cheng Mong, Wen-Chang Wang\",\"doi\":\"10.1111/odi.70037\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Objective: We conducted a genome-wide association study (GWAS) to identify single-nucleotide polymorphisms (SNPs) associated with malignant transformation in oral verrucous hyperplasia (OVH) patients.Methods: The genomic DNA used for SNP genotyping was extracted from the buffy coat. The primary trait of the GWAS was cancer-free survival, defined as beginning at the initial OVH diagnosis and ending at the first diagnosis of oral cancer, loss to follow-up, or the end of follow-up, whichever occurred first. For each SNP, the distributions of cancer-free survival were compared between minor allele carriers and non-carriers using the log-rank test, and an SNP with a significant difference was considered to be associated with OVH malignant transformation.Results: The GWAS identified seven genome-wide significantly associated SNPs (p < 10-7). Among them, four are located in long non-coding RNA genes (STX18-AS1, TARID, LOC124903183, and GNAO1-DT), two are located in protein-coding genes (LIMCH1 and ZBTB44), and the remaining one is located in a non-coding RNA gene (LOC105375416). For each SNP, the minor allele was associated with a higher risk of malignant transformation.Conclusions: This pilot GWAS suggests genetic contributions to OVH malignant transformation. These findings warrant validation in larger samples and replication across diverse populations in future studies.\",\"PeriodicalId\":19615,\"journal\":{\"name\":\"Oral diseases\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-07-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oral diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/odi.70037\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oral diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/odi.70037","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}

引用次数: 0

摘要

目的：我们进行了一项全基因组关联研究（GWAS），以鉴定与口腔疣状增生（OVH）患者恶性转化相关的单核苷酸多态性（snp）。方法：提取褐毛被毛基因组DNA进行SNP基因分型。GWAS的主要特征是无癌生存期，定义为开始于OVH的初始诊断，结束于口腔癌的首次诊断、随访缺失或随访结束，以先发生者为例。对于每个SNP，使用log-rank检验比较次要等位基因携带者和非携带者的无癌生存分布，认为有显著差异的SNP与OVH恶性转化相关。结果：GWAS鉴定出7个全基因组显著相关的snp （p -7）。其中4个位于长链非编码RNA基因（STX18-AS1、TARID、LOC124903183、GNAO1-DT）， 2个位于蛋白编码基因（LIMCH1、ZBTB44）， 1个位于非编码RNA基因（LOC105375416）。对于每个SNP，次要等位基因与更高的恶性转化风险相关。结论：该试验性GWAS提示遗传因素与OVH恶性转化有关。这些发现值得在更大的样本中验证，并在未来的研究中在不同的人群中复制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Pilot Genome-Wide Association Study of Malignant Transformation of Oral Verrucous Hyperplasia.

Objective: We conducted a genome-wide association study (GWAS) to identify single-nucleotide polymorphisms (SNPs) associated with malignant transformation in oral verrucous hyperplasia (OVH) patients.

Methods: The genomic DNA used for SNP genotyping was extracted from the buffy coat. The primary trait of the GWAS was cancer-free survival, defined as beginning at the initial OVH diagnosis and ending at the first diagnosis of oral cancer, loss to follow-up, or the end of follow-up, whichever occurred first. For each SNP, the distributions of cancer-free survival were compared between minor allele carriers and non-carriers using the log-rank test, and an SNP with a significant difference was considered to be associated with OVH malignant transformation.

Results: The GWAS identified seven genome-wide significantly associated SNPs (p < 10^-7). Among them, four are located in long non-coding RNA genes (STX18-AS1, TARID, LOC124903183, and GNAO1-DT), two are located in protein-coding genes (LIMCH1 and ZBTB44), and the remaining one is located in a non-coding RNA gene (LOC105375416). For each SNP, the minor allele was associated with a higher risk of malignant transformation.

Conclusions: This pilot GWAS suggests genetic contributions to OVH malignant transformation. These findings warrant validation in larger samples and replication across diverse populations in future studies.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Oral diseases 医学-牙科与口腔外科

CiteScore

7.60

自引率

5.30%

发文量

325

审稿时长

4-8 weeks

期刊介绍： Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.