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牙周疾病的遗传生物标志物:一项系统综述。

Genetic Biomarkers for Periodontal Diseases: A Systematic Review.

作者信息

Dommisch H, Hoedke D, Lu E M-C, Schäfer A, Richter G, Kang J, Nibali L

机构信息

Department of Periodontology, Oral Medicine and Oral Surgery, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany.

Periodontology Unit, Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London, UK.

出版信息

J Clin Periodontol. 2025 Aug;52 Suppl 29(Suppl 29):182-210. doi: 10.1111/jcpe.14149. Epub 2025 Apr 8.


DOI:10.1111/jcpe.14149
PMID:40197750
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12286649/
Abstract

AIMS: To identify genetic biomarkers that may be used in the diagnosis, prevention or management of different forms of periodontal disease. MATERIALS AND METHODS: Following protocol registration and PICOTS (patient, intervention, comparison, outcome, time, studies) questions, a systematic search of the literature was conducted (PudMed, Ovid), resulting in 1592 papers screened by two reviewers. Diagnostic data were extracted or calculated from included papers and compared with clinically determined diagnoses, disease progression and/or response to treatment. RESULTS: A total of 607 articles met the inclusion criteria, including 10 reporting data on gingivitis and 597 on periodontitis. Only two papers reported diagnostic performance data, while for 41 articles on large candidate gene studies, diagnostic performance could be calculated from the reported data. No study using chair-side tests was identified. Low to moderate values for sensitivity, specificity, positive and negative predictive value and diagnostic accuracy were found. CONCLUSION: No genetic diagnostic test of clinical value emerged for periodontal diagnosis, prevention or prediction of disease resolution. Thus, potential future applications of polygenic risk scores that encode susceptibility, as well as single-marker testing for monogenic or oligogenic forms of periodontal diseases, are discussed.

摘要

目的:确定可用于不同形式牙周病诊断、预防或管理的基因生物标志物。 材料与方法:按照方案注册和PICOTS(患者、干预措施、对照、结局、时间、研究)问题,对文献进行系统检索(PudMed、Ovid),两名审阅者共筛选出1592篇论文。从纳入的论文中提取或计算诊断数据,并与临床确定的诊断、疾病进展和/或治疗反应进行比较。 结果:共有607篇文章符合纳入标准,其中10篇报告了牙龈炎数据,597篇报告了牙周炎数据。只有两篇论文报告了诊断性能数据,而对于41篇关于大型候选基因研究的文章,可以根据报告的数据计算诊断性能。未发现使用椅旁检测的研究。敏感性、特异性、阳性和阴性预测值以及诊断准确性的值为低到中度。 结论:未出现对牙周病诊断、预防或疾病缓解预测具有临床价值的基因诊断检测方法。因此,讨论了编码易感性的多基因风险评分以及针对单基因或寡基因形式牙周病的单标记检测在未来的潜在应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa5/12286649/43605e2a3d53/JCPE-52-182-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa5/12286649/43605e2a3d53/JCPE-52-182-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa5/12286649/43605e2a3d53/JCPE-52-182-g001.jpg

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引用本文的文献

[1]
Consensus Report of the 20th European Workshop on Periodontology: Contemporary and Emerging Technologies in Periodontal Diagnosis.

J Clin Periodontol. 2025-8

本文引用的文献

[1]
Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis-A synthesis of recent findings.

Periodontol 2000. 2025-2-14

[2]
Genome-wide association studies on periodontitis: A systematic review.

PLoS One. 2024

[3]
A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci.

J Clin Periodontol. 2024-4

[4]
Multi-PGS enhances polygenic prediction by combining 937 polygenic scores.

Nat Commun. 2023-8-5

[5]
Fast and accurate Bayesian polygenic risk modeling with variational inference.

Am J Hum Genet. 2023-5-4

[6]
Polygenic risk scores and breast cancer risk prediction.

Breast. 2023-2

[7]
Siglec-5 is an inhibitory immune checkpoint molecule for human T cells.

Immunology. 2022-6

[8]
Replication of gene polymorphisms associated with periodontitis-related traits in an elderly cohort: the Washington Heights/Inwood Community Aging Project Ancillary Study of Oral Health.

J Clin Periodontol. 2022-5

[9]
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.

J Dent Res. 2022-2

[10]
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.

Nat Genet. 2021-4

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