Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Rio de Janeiro, Brazil.
Caries Res. 2012;46(4):401-7. doi: 10.1159/000339379. Epub 2012 Jun 15.
Recent evidence suggests that genetic studies may contribute to a better understanding of individual susceptibility to caries. Matrix metalloproteinases (MMPs) and their tissue inhibitors have been suggested to be involved in the caries process. The purpose of this study was to determine if polymorphisms in MMP2 (rs243865), MMP9 (rs17576), MMP13 (rs2252070), and TIMP2 (rs7501477) were associated with caries. Eligible unrelated children and adolescents were evaluated using a cross-sectional design. Data on oral health habits was obtained through a questionnaire and caries data was collected by clinical examination. Genotyping of the selected polymorphisms was carried out by real-time PCR. Allele and genotype frequencies were compared between individuals with and without caries experience. Of 505 subjects, 212 were caries-free and most subjects (61.2%) had mixed dentition. Allele frequency of MMP2, MMP13 and TIMP2 was different between caries-affected and caries-free individuals, with significant association for MMP13 (p = 0.004). Mutant allele carriers for MMP13 demonstrated a significantly decreased risk for caries (OR = 0.538, 95% CI 0.313-0.926); this result remained significant after adjustment for candidate genes, type of dentition and dietary factors. Allelic and genotype frequencies of the polymorphism in MMP9 were similar in caries-affected and caries-free individuals. Genetic variations in MMP13 may contribute to individual differences in caries susceptibility. Our findings reinforce that susceptibility to caries results from gene-environment interactions.
最近的证据表明,遗传研究可能有助于更好地理解个体对龋齿的易感性。基质金属蛋白酶 (MMPs) 及其组织抑制剂被认为与龋齿过程有关。本研究旨在确定 MMP2(rs243865)、MMP9(rs17576)、MMP13(rs2252070)和 TIMP2(rs7501477) 多态性是否与龋齿有关。采用横断面设计对符合条件的无亲缘关系的儿童和青少年进行评估。通过问卷获得口腔健康习惯数据,并通过临床检查收集龋齿数据。通过实时 PCR 对所选多态性进行基因分型。比较有龋齿和无龋齿经验个体的等位基因和基因型频率。在 505 名受试者中,212 名无龋齿,大多数受试者(61.2%)处于混合牙列期。MMP2、MMP13 和 TIMP2 的等位基因频率在龋齿患者和无龋齿患者之间存在差异,MMP13 具有显著相关性(p=0.004)。MMP13 突变等位基因携带者的龋齿风险显著降低(OR=0.538,95%CI 0.313-0.926);在调整候选基因、牙列类型和饮食因素后,该结果仍然显著。MMP9 多态性的等位基因和基因型频率在龋齿患者和无龋齿患者之间相似。MMP13 的遗传变异可能导致个体对龋齿易感性的差异。我们的研究结果强调了龋齿易感性是由基因-环境相互作用引起的。