Deeley K, Letra A, Rose E K, Brandon C A, Resick J M, Marazita M L, Vieira A R
Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Caries Res. 2008;42(1):8-13. doi: 10.1159/000111744. Epub 2007 Nov 27.
There is evidence for a genetic component in caries susceptibility, but the disease is greatly influenced by environmental factors, which are extremely difficult to control in humans. For the present study, we used DNA samples collected from 110 unrelated, non-cleft individuals older than 12 years of age from Tiquisate, Guatemala: a population with similar cultural, dietary and hygiene habits, similar access to the dentist and fluoride exposure. Forty-four individuals were designated 'very low caries experience' (DMFT < or = 2), and 66 were designated 'higher caries experience' (DMFT > or = 3). Single-nucleotide polymorphism markers were genotyped in selected candidate genes (ameloblastin, amelogenin, enamelin, tuftelin-1, and tuftelin interacting protein 11) that influence enamel formation. Having at least one copy of the rare amelogenin marker allele was associated with increased age-adjusted caries experience. This association was stronger in individuals with higher DMFT (DMFT > or = 20; p = 0.0000001). Our results suggest that variation in amelogenin may contribute to caries susceptibility in the population studied. The approach of comparing individuals with extremely distinct caries experiences could be valuable for decreasing the potential influence of environmental factors on genetic studies of caries.
有证据表明龋齿易感性存在遗传因素,但该疾病受环境因素的影响很大,而在人类中极难控制这些环境因素。在本研究中,我们使用了从危地马拉蒂基萨特的110名12岁以上无亲缘关系、无腭裂的个体收集的DNA样本:这是一个文化、饮食和卫生习惯相似,看牙医机会和氟暴露情况相似的人群。44人被指定为“极低龋齿经历”(DMFT≤2),66人被指定为“较高龋齿经历”(DMFT≥3)。对影响牙釉质形成的选定候选基因(成釉蛋白、釉原蛋白、釉蛋白、牙丛蛋白-1和牙丛蛋白相互作用蛋白11)中的单核苷酸多态性标记进行基因分型。拥有至少一份罕见的釉原蛋白标记等位基因与年龄调整后的龋齿经历增加有关。这种关联在DMFT较高(DMFT≥20;p = 0.0000001)的个体中更强。我们的结果表明,釉原蛋白的变异可能导致所研究人群的龋齿易感性。比较具有截然不同龋齿经历的个体的方法,对于降低环境因素对龋齿遗传研究的潜在影响可能具有重要价值。