龋病全基因组关联研究:系统综述。

IF 2.6 2区 医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE
Caries Research Pub Date : 2025-10-01 DOI:10.1159/000548693
Ke Zhou, Chenyi Gao, Jianhua Wu, Avijit Banerjee, Mark Ide, Jing Kang
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引用次数: 0

摘要

龋齿是一种复杂的、多因素的病理疾病。尽管牙科保健取得了进步,但龋齿仍然是一项重大的公共卫生挑战。除了行为因素(如糖接触)和环境/口腔卫生因素(如在水和/或牙膏中接触氟化物)对龋齿的发展有影响外,可能存在对龋齿易感性的潜在遗传影响,但证据尚无定论,特别是从候选基因方法来看。在过去的二十年中,全基因组关联研究(GWAS)方法也被应用于了解与龋齿相关的遗传变异。本研究旨在系统回顾GWAS对龋病的影响,并识别龋病的相关遗传风险变异。方法于2024年3月对5个数据库(PubMed、ScienceDirect、EMBASE、GLOBAL HEALTH、MEDLINE)和1个GWAS注册库(GWAS Catalog)进行系统检索。2005年以后发表的使用GWAS方法的研究是合格的。采用Q-genie工具进行质量评价。提取并合成常规(5x10-8)或暗示性(5x10-6) GWAS显著性水平的研究信息和单核苷酸多态性(snp)。结果共纳入16篇论文,鉴定出20个具有常规GWAS显著性水平的与龋病相关的危险snp, 33个具有提示性水平的snp。研究之间没有发现共同的常规snp或共享的基因区域。在这些研究中,大多数样本量相对较小,只有一项研究报告了所有推荐的质量控制步骤。大多数研究集中在白人或欧美人群和恒牙上的龋齿。此外,一些数据资源在多个研究中被重复使用,特别是在9项研究中使用了阿巴拉契亚队列口腔健康研究中心(COHRA)。结论本研究探讨了GWAS对龋病的影响,并总结了纳入研究的异质性,导致结果不一致。为了充分了解龋病的遗传基础,需要更多的指南和更大的样本量和多种族的GWAS。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genome-wide association studies on dental caries: A systematic review.

Introduction Dental caries is a complex, multifactorial pathological disease. Despite advances in dental care, dental caries continues to pose a significant public health challenge. In addition to the behavioural factors (e.g. sugar exposure) and environmental / oral hygiene factors (e.g. fluoridate exposure in water and/or toothpaste) on the development of dental caries, potential genetic influence on dental caries susceptibility is possible but evidence is inconclusive, especially from a candidate gene approach. Over the past two decades, a genome-wide association study (GWAS) approach has also been applied to understand the genetic variants associated with dental caries. This study aims to systematically review GWAS on dental caries and identify relevant genetic risk variants of dental caries. Methods A systematic search was conducted on five databases (PubMed; ScienceDirect; EMBASE, GLOBAL HEALTH, MEDLINE) and one GWAS registry: GWAS Catalog in March 2024. Studies published after 2005 using GWAS approach were eligible. Q-genie tool was used for the quality assessment. Study information and single nucleotide polymorphisms (SNPs) at conventional (5x10-8) or suggestive (5x10-6) GWAS significance level were extracted and synthesized. Results A total of 16 papers were included, identifying 20 risk SNPs associated with dental caries at conventional GWAS significance level, and 33 SNPs at suggestive level. No common conventional SNPs or shared gene regions were found between studies. Of these studies, the sample sizes in majority were relatively small and only one study reported all recommended quality control steps. Most studies focused on the White or European-American population and dental caries on permanent teeth. In addition, some data resources were used repeatedly in multiple studies, particularly the Center for Oral Health Research in Appalachia cohorts (COHRA) which was used in 9 studies. Conclusion This study explored the GWAS on dental caries and summarized the heterogeneities of the included studies leading to inconsistent results. Guideline and more GWAS with larger sample size and multi-ethnicities are needed to fully understand the genetic basis of dental caries.

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来源期刊
Caries Research
Caries Research 医学-牙科与口腔外科
CiteScore
6.30
自引率
7.10%
发文量
34
审稿时长
6-12 weeks
期刊介绍: ''Caries Research'' publishes epidemiological, clinical and laboratory studies in dental caries, erosion and related dental diseases. Some studies build on the considerable advances already made in caries prevention, e.g. through fluoride application. Some aim to improve understanding of the increasingly important problem of dental erosion and the associated tooth wear process. Others monitor the changing pattern of caries in different populations, explore improved methods of diagnosis or evaluate methods of prevention or treatment. The broad coverage of current research has given the journal an international reputation as an indispensable source for both basic scientists and clinicians engaged in understanding, investigating and preventing dental disease.
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