Heritable patterns of tooth decay in the permanent dentition: principal components and factor analyses
Heritable patterns of tooth decay in the permanent dentition: principal components and factor analyses
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DOI：
10.1186/1472-6831-12-7
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发表时间：
2012-03-09
期刊：
影响因子：
2.9
通讯作者：
Marazita, Mary L.
中科院分区：
文献类型：
--
作者：
Shaffer, John R.;Feingold, Eleanor;Marazita, Mary L.
背景：龋齿是环境、行为和遗传因素复杂相互作用的结果，由于特定的病因，龋齿可能有不同的模式。因此，对于识别表现为特定衰变模式的风险因素而言，诸如DMFS指数之类的全球衰变测量方法可能不是最佳的，特别是当遗传易感性位点等风险因素具有较小的个体影响时。我们使用两种方法从表面龋数据中提取龋蚀模式，以产生新的表型，从而探索龋病的遗传调控。方法：对来自664个生物学家系、年龄在18 ~ 75岁的1068人进行恒牙列128个牙面口腔内检查，评分为龋齿或不龋齿。主成分分析（PCA）和因子分析（FA）是两种无需先验表面分类就能识别潜在模式的方法。结果：PCA识别的3种最强龋型分别为DMFS指数（相关系数r = 0.97）、坑面和裂隙面龋（相关系数r = 0.95）、光滑面龋（相关系数r = 0.89）。然而，这三种模式加在一起只能解释数据中37%的变异性，这表明先验的龋齿测量不足以完全量化龋齿变化。相比之下，FA鉴定的第一种模式与坑面和裂隙面龋病密切相关（r = 0.81），但其他鉴定的模式，包括代表上颌门牙龋病的第二种模式，不代表任何先前定义的龋病指数。PCA和FA鉴定出的一些模式是可遗传的（h(2) = 30-65%, p = 0.043-0.006），而其他模式则不是，表明个体腐烂模式的遗传和非遗传病因。结论：这项研究证明了使用蛀牙模式作为新的表型，以帮助了解龋齿的多因素性质。
Background: Dental caries is the result of a complex interplay among environmental, behavioral, and genetic factors, with distinct patterns of decay likely due to specific etiologies. Therefore, global measures of decay, such as the DMFS index, may not be optimal for identifying risk factors that manifest as specific decay patterns, especially if the risk factors such as genetic susceptibility loci have small individual effects. We used two methods to extract patterns of decay from surface-level caries data in order to generate novel phenotypes with which to explore the genetic regulation of caries.Methods: The 128 tooth surfaces of the permanent dentition were scored as carious or not by intra-oral examination for 1,068 participants aged 18 to 75 years from 664 biological families. Principal components analysis (PCA) and factor analysis (FA), two methods of identifying underlying patterns without a priori surface classifications, were applied to our data.Results: The three strongest caries patterns identified by PCA recaptured variation represented by DMFS index (correlation, r = 0.97), pit and fissure surface caries (r = 0.95), and smooth surface caries (r = 0.89). However, together, these three patterns explained only 37% of the variability in the data, indicating that a priori caries measures are insufficient for fully quantifying caries variation. In comparison, the first pattern identified by FA was strongly correlated with pit and fissure surface caries (r = 0.81), but other identified patterns, including a second pattern representing caries of the maxillary incisors, were not representative of any previously defined caries indices. Some patterns identified by PCA and FA were heritable (h(2) = 30-65%, p = 0.043-0.006), whereas other patterns were not, indicating both genetic and non-genetic etiologies of individual decay patterns.Conclusions: This study demonstrates the use of decay patterns as novel phenotypes to assist in understanding the multifactorial nature of dental caries.