Preliminary study on genetic factors related to Demirjian's tooth age estimation method based on genome-wide association analysis
Preliminary study on genetic factors related to Demirjian's tooth age estimation method based on genome-wide association analysis
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DOI：
10.1007/s00414-023-03008-y
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发表时间：
2023-05-03
影响因子：
2.1
通讯作者：
Liu，Ying
中科院分区：
文献类型：
--
作者：
Wang，Chudong;Tian，ZhiKai;Liu，Ying
个人（尤其是未成年人）的年龄确定在法医研究中至关重要。在法医实践中，牙齿年龄估计是最常用的确定年龄的方法之一，因为牙齿易于保存且相对耐环境因素。牙齿的发育受遗传因素的影响和调节；然而，这些并未纳入当前常用的牙龄推断方法中，导致结果不可靠。在这里，我们建立了适合中国南方儿童使用的基于 Demirjian 和 Cameriere 牙龄估计的方法。以推断年龄与实际年龄（MD）之间的差异为表型，通过全基因组关联分析，从中国南方地区171名儿童的743,722个位点中鉴定出65个和49个与牙龄估计相关的SNP（p<0.0001）。我们还利用Demirjian牙龄估计方法进行了牙齿发育阶段（DD）的全基因组关联研究，并根据是否考虑年龄差异筛选了两组SNP位点（52和26）。对这些SNPs的基因功能富集分析发现，它们与骨发育和矿化有关。虽然基于MD筛选的SNP位点似乎提高了牙龄估计的准确性，但这些SNP与个体的Demirjian形态阶段之间几乎没有相关性。总之，我们发现个体基因型可以影响牙龄估计，并且基于不同的表型分析模型，我们鉴定了一些与牙龄推断和Demirjian牙齿发育阶段相关的新的SNP位点。这些研究为后续基于牙龄推断分析的表型选择提供了参考，未来可能利用这些结果使法医年龄估计更加准确。
The age determination of individuals, especially minors, is critical in forensic research. In forensic practice, dental age estimation is one of the most commonly used methods for determining age as teeth are easy to preserve and relatively resistant to environmental factors. Tooth development is affected and regulated by genetic factors; however, these are not incorporated into current commonly used tooth age inference methods, leading to unreliable results. Here, we established a Demirjian and a Cameriere tooth age estimation-based methods suitable for use in children in southern China. By using the difference between the inferred age and the actual age (MD) as the phenotype, we identified 65 and 49 SNPs related to tooth age estimation from 743,722 loci among 171 children in southern China through a genome-wide association analysis (p<0.0001). We also conducted a genome-wide association study on dental development stage (DD) using the Demirjian tooth age estimation method and screened two sets of SNP sites (52 and 26) based on whether age difference was considered. The gene function enrichment analysis of these SNPs found that they were related to bone development and mineralization. Although SNP sites screened based on MD seem to improve the accuracy of tooth age estimation, there is little correlation between these SNPs and an individual’s Demirjian morphological stage. In conclusion, we found that individual genotypes can affect tooth age estimation, and based on different phenotypic analysis models, we have identified some novel SNP sites related to tooth age inference and Demirjian’s tooth development stage. These studies provide a reference for subsequent phenotypic selection based on tooth age inference analysis, and the results could possibly be used in the future to make forensic age estimation more accurate.