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Clinical application of genetics to guide prevention and treatment of oral diseases

机译：遗传学在口腔疾病防治中的临床应用

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摘要

Dental care costs in the United States exceed $100 billion annually. Personalized medicine efforts in dentistry are driven by potentially compelling clinical utility and cost-effectiveness prospects in the major diseases of periodontitis, caries, and oral cancers. This review discusses progress and challenges identifying genetic markers and showing clinical utility in dentistry. Genome-wide association studies (GWAS) of chronic periodontitis (CP) identified no significant variants, but CDKN2BAS variants on chromosome 9 were significantly associated with aggressive periodontitis. Stratifying patients by interleukin (IL)-1 gene variants, smoking and diabetes differentiated CP prevention outcomes. Dental caries’ GWAS identified significant signals in LYZL2, AJAp1, and KPNA4; and efforts are ongoing to identify genetic factors for multiple caries phenotypes. Trials of molecularly targeted therapies are in progress for oral, head, and neck squamous cell carcinomas (OHNSCC) and results have been promising but limited in their effectiveness. Current opportunities and challenges for molecular targeting for OHNSCC are discussed.
机译：美国每年的牙科护理费用超过1000亿美元。在牙周炎，龋齿和口腔癌等主要疾病中，令人信服的临床效用和具有成本效益的前景推动了牙科领域的个性化医学工作。这篇综述讨论了鉴定遗传标记并显示其在牙科领域中的临床实用性的进展和挑战。慢性牙周炎（CP）的全基因组关联研究（GWAS）没有发现明显的变异，但是9号染色体上的CDKN2BAS变异与侵袭性牙周炎显着相关。通过白介素（IL）-1基因变异，吸烟和糖尿病对患者进行分层，从而区分CP预防结果。龋齿的GWAS在LYZL2，AJAp1和KPNA4中发现了重要信号；并且正在努力寻找多种龋齿表型的遗传因素。针对口腔，头部和颈部鳞状细胞癌（OHNSCC）的分子靶向疗法的试验正在进行中，其结果令人鼓舞，但其有效性有限。讨论了针对OHNSCC分子靶向的当前机遇和挑战。

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