Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity.

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-06-20 DOI:10.1038/s41525-025-00509-0

Alba Hernangomez-Laderas, Ariadna Cilleros-Portet, Sergi Marí, Bárbara P González-García, Ane Arregi, Alba Jimeno-Romero, Amaia Irizar, Iraia García-Santisteban, Corina Lesseur, Nora Fernandez-Jimenez, Jose Ramon Bilbao

{"title":"Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity.","authors":"Alba Hernangomez-Laderas, Ariadna Cilleros-Portet, Sergi Marí, Bárbara P González-García, Ane Arregi, Alba Jimeno-Romero, Amaia Irizar, Iraia García-Santisteban, Corina Lesseur, Nora Fernandez-Jimenez, Jose Ramon Bilbao","doi":"10.1038/s41525-025-00509-0","DOIUrl":null,"url":null,"abstract":"<p><p>Saliva is an accessible biofluid with potential for non-invasive disease diagnostics. This study explores how genetic susceptibility to common diseases is reflected in DNA methylation (DNAm) and gene expression profiles in saliva. We constructed cis-mQTL (n = 345) and cis-eQTL (n = 277) datasets and examined correlations between DNAm and gene expression. Saliva QTLs were integrated with summary statistics from 36 genome-wide association studies (GWAS) using Summary-based Mendelian Randomization (SMR) to identify disease-associated molecular traits. We found 501 CpG sites and 24 genes as candidate biomarkers, as well as 56 eQTMs linked to conditions such as prostate cancer, squamous cell carcinoma, coronary artery disease, type 2 diabetes, and Parkinson's disease. This work introduces a publicly available resource and suggests that saliva-based molecular signatures may capture systemic disease risk, supporting future exploration as diagnostic markers.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"49"},"PeriodicalIF":4.7000,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181411/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"NPJ Genomic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41525-025-00509-0","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Saliva is an accessible biofluid with potential for non-invasive disease diagnostics. This study explores how genetic susceptibility to common diseases is reflected in DNA methylation (DNAm) and gene expression profiles in saliva. We constructed cis-mQTL (n = 345) and cis-eQTL (n = 277) datasets and examined correlations between DNAm and gene expression. Saliva QTLs were integrated with summary statistics from 36 genome-wide association studies (GWAS) using Summary-based Mendelian Randomization (SMR) to identify disease-associated molecular traits. We found 501 CpG sites and 24 genes as candidate biomarkers, as well as 56 eQTMs linked to conditions such as prostate cancer, squamous cell carcinoma, coronary artery disease, type 2 diabetes, and Parkinson's disease. This work introduces a publicly available resource and suggests that saliva-based molecular signatures may capture systemic disease risk, supporting future exploration as diagnostic markers.

查看原文本刊更多论文

唾液作为一种潜在的诊断介质：口腔以外疾病的DNA甲基化生物标志物。

唾液是一种易于获取的生物流体，具有非侵入性疾病诊断的潜力。本研究探讨了唾液中DNA甲基化（DNAm）和基因表达谱如何反映对常见疾病的遗传易感性。我们构建了顺式mqtl （n = 345）和顺式eqtl （n = 277）数据集，并检验了DNAm与基因表达之间的相关性。利用基于摘要的孟德尔随机化（SMR）方法，将唾液qtl与36项全基因组关联研究（GWAS）的汇总统计数据进行整合，以鉴定疾病相关的分子性状。我们发现了501个CpG位点和24个基因作为候选生物标志物，以及56个与前列腺癌、鳞状细胞癌、冠状动脉疾病、2型糖尿病和帕金森病等疾病相关的eQTMs。这项工作引入了一种公开可用的资源，并表明基于唾液的分子特征可以捕获全身性疾病风险，支持未来作为诊断标志物的探索。

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

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.