Caries is a partially heritable disease, raising the possibility that a polygenic score (PS, a summary of an individual’s genetic propensity for disease) might be a useful tool for risk assessment. To date, PS for some diseases have shown clinical utility, although no PS for caries has been evaluated. The objective of the study was to test whether a PS for caries is associated with disease experience or increment in a cohort of Swedish adults. A genome-wide PS for caries was trained using the results of a published genome-wide association meta-analysis and constructed in an independent cohort of 15,460 Swedish adults. Electronic dental records from the Swedish Quality Registry for Caries and Periodontitis (SKaPa) were used to compute the decayed, missing, and filled tooth surfaces (DMFS) index and the number of remaining teeth. The performance of the PS was evaluated by testing the association between the PS and DMFS at a single dental examination, as well as between the PS and the rate of change in DMFS. Participants in the highest and lowest deciles of PS had a mean DMFS of 63.5 and 46.3, respectively. A regression analysis confirmed this association where a 1 standard deviation increase in PS was associated with approximately 4-unit higher DMFS ( P < 2 × 10−16). Participants with the highest decile of PS also had greater change in DMFS during follow-up. Results were robust to sensitivity analysis, which adjusted for age, age squared, sex, and the first 20 genetic principal components. Mediation analysis suggested that tooth loss was a strong mediating factor in the association between PS and DMFS but also supported a direct genetic effect on caries. In this cohort, there are clinically meaningful differences in DMFS between participants with high and low PS for caries. The results highlight the potential role of genomic data in improving caries risk assessment.

中文翻译：

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多基因评分可预测瑞典老年人的龋病经历

龋齿是一种部分遗传性疾病，因此多基因评分（PS，个体疾病遗传倾向的总结）可能成为风险评估的有用工具。迄今为止，PS 对于某些疾病已显示出临床实用性，但尚未评估 PS 对于龋齿的作用。该研究的目的是测试瑞典成年人队列中龋齿的 PS 是否与疾病经历或增加相关。使用已发表的全基因组关联荟萃分析的结果来训练龋齿的全基因组 PS，并在 15,460 名瑞典成年人的独立队列中构建。瑞典龋齿和牙周炎质量登记处 (SKaPa) 的电子牙科记录用于计算腐烂、缺失和填充的牙齿表面 (DMFS) 指数以及剩余牙齿的数量。通过测试单次牙科检查时 PS 和 DMFS 之间的关联以及 PS 和 DMFS 变化率之间的关联来评估 PS 的性能。 PS 最高和最低十分位的参与者的平均 DMFS 分别为 63.5 和 46.3。回归分析证实了这种关联，其中 PS 增加 1 个标准差与 DMFS 增加约 4 个单位相关（ P < 2 × 10−16）。 PS 最高十分之一的参与者在随访期间 DMFS 也有较大变化。结果对敏感性分析是稳健的，该分析针对年龄、年龄平方、性别和前 20 个遗传主成分进行了调整。中介分析表明，牙齿缺失是 PS 和 DMFS 之间关联的强中介因素，但也支持对龋齿的直接遗传影响。在该队列中，龋齿 PS 高和低的参与者之间的 DMFS 存在有临床意义的差异。结果强调了基因组数据在改善龋齿风险评估方面的潜在作用。