Human enamel thickness and ENAM polymorphism.
Human enamel thickness and ENAM polymorphism.
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DOI：
10.1038/ijos.2016.1
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发表时间：
2016-06-30
影响因子：
14.9
通讯作者：
Roberts FA
中科院分区：
文献类型：
--
作者：
Daubert DM;Kelley JL;Udod YG;Habor C;Kleist CG;Furman IK;Tikonov IN;Swanson WJ;Roberts FA
在对人类和灵长类动物DNA进行全基因组扫描以寻找适应性进化迹象的过程中，牙釉质发育基因enamelin（ENAM）显示出正选择的证据。目前的研究检查的假设，单核苷酸多态性（SNP）C14625 T（rs7671281）在全基因组扫描中确定的ENAM基因与釉质表型的变化。选择非裔美国人作为目标人群，因为据报道他们的目标SNP频率约为50%，而非非洲人的SNP频率预计为96%。分析了133名受试者244颗牙齿的数字X光照片和DNA样本，并评估了与SNP状态相关的釉质厚度，控制了年龄，性别，牙齿数量和牙冠长度。冠长被发现增加与摩尔数，女性被发现有较厚的釉质。牙冠较大的牙齿也有较厚的釉质，而年龄较大的受试者的釉质较薄。线性回归和广义估计方程被用来调查釉质厚度的下颌磨牙和ENAM SNP状态之间的关系;釉质中衍生的等位基因的主题显着变薄（P=0.040）时，控制的结果性别，年龄，牙齿数量和冠长。衍生的等位基因表现出对表型的隐性效应。数据表明，较薄的牙釉质与衍生的ENAM基因型相关。这是第一个直接证据表明，牙齿基因与人类适应性进化有关，对口腔结构有表型影响。
The tooth enamel development gene, enamelin (ENAM), showed evidence of positive selection during a genome-wide scan of human and primate DNA for signs of adaptive evolution. The current study examined the hypothesis that a single-nucleotide polymorphism (SNP) C14625T (rs7671281) in the ENAM gene identified in the genome-wide scan is associated with a change in enamel phenotype. African Americans were selected as the target population, as they have been reported to have a target SNP frequency of approximately 50%, whereas non-Africans are predicted to have a 96% SNP frequency. Digital radiographs and DNA samples from 244 teeth in 133 subjects were analysed, and enamel thickness was assessed in relation to SNP status, controlling for age, sex, tooth number and crown length. Crown length was found to increase with molar number, and females were found to have thicker enamel. Teeth with larger crowns also had thicker enamel, and older subjects had thinner enamel. Linear regression and generalized estimating equations were used to investigate the relationship between enamel thickness of the mandibular molars and ENAM SNP status; enamel in subjects with the derived allele was significantly thinner (P=0.040) when the results were controlled for sex, age, tooth number and crown length. The derived allele demonstrated a recessive effect on the phenotype. The data indicate that thinner dental enamel is associated with the derived ENAM genotype. This is the first direct evidence of a dental gene implicated in human adaptive evolution as having a phenotypic effect on an oral structure.