Periodontology Unit, Centre for Host Microbiome Interactions, Faculty of Dentistry, Oral & Craniofacial Sciences, King's College London, London, UK.
Department of Pediatric Dentistry and Dental Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Periodontol 2000. 2024 Jun;95(1):194-202. doi: 10.1111/prd.12587. Epub 2024 Jul 28.
Recent advances in human genomics and the advent of molecular medicine have catapulted our ability to characterize human and health and disease. Scientists and healthcare practitioners can now leverage information on genetic variation and gene expression at the tissue or even individual cell level, and an enormous potential exists to refine diagnostic categories, assess risk in unaffected individuals, and optimize disease management among those affected. This review investigates the progress made in the domains of molecular medicine and genomics as they relate to periodontology. The review summarizes the current evidence of association between genomics and periodontal diseases, including the current state of knowledge that approximately a third of the population variance of periodontitis may be attributable to genetic variation and the management of several monogenic forms of the disease can be augmented by knowledge of the underlying genetic cause. Finally, the paper discusses the potential utility of polygenic risk scores and genetic testing for periodontitis diagnosis now and in the future, in light of applications that currently exist in other areas of medicine and healthcare.
近年来,人类基因组学的进步和分子医学的出现,极大地提高了我们描述人类健康和疾病的能力。科学家和医疗保健从业者现在可以利用组织甚至单个细胞水平上的遗传变异和基因表达信息,并且存在巨大的潜力可以完善诊断类别,评估未受影响个体的风险,并优化受影响者的疾病管理。这篇综述调查了分子医学和基因组学领域在牙周病学方面的进展。该综述总结了基因组学与牙周病之间关联的现有证据,包括目前的知识状态,即大约三分之一的牙周炎人群变异可能归因于遗传变异,并且对几种单基因形式的疾病的管理可以通过了解潜在的遗传原因来增强。最后,本文讨论了多基因风险评分和遗传测试在牙周炎诊断中的潜在应用,以及它们在未来的应用,考虑到目前在医学和医疗保健的其他领域已经存在的应用。
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