UMR 7138, Université Pierre et Marie Curie, 75005 Paris, France.
J Dent Res. 2013 May;92(5):418-24. doi: 10.1177/0022034513482941. Epub 2013 Mar 22.
Genetic approaches have shown that several genes could modify caries susceptibility; AmelogeninX (AMELX) has been repeatedly designated. Here, we hypothesized that AMELX mutations resulting in discrete changes of enamel microstructure may be found in children with a severe caries phenotype. In parallel, possible AMELX mutations that could explain resistance to caries may be found in caries-free patients. In this study, coding exons of AMELX and exon-intron boundaries were sequenced in 399 individuals with extensive caries (250) or caries-free (149) individuals from nine French hospital groups. No mutation responsible for a direct change of amelogenin function was identified. Seven single-nucleotide polymorphisms (SNPs) were found, 3 presenting a high allele frequency, and 1 being detected for the first time. Three SNPs were located in coding regions, 2 of them being non-synonymous. Both evolutionary and statistical analyses showed that none of these SNPs was associated with caries susceptibility, suggesting that AMELX is not a gene candidate in our studied population.
遗传方法表明，有几个基因可以修饰龋齿易感性；釉原蛋白 X (AMELX) 已被反复指定。在这里，我们假设导致釉质微观结构发生离散变化的 AMELX 突变可能存在于具有严重龋齿表型的儿童中。同时，在无龋齿患者中可能会发现能解释抗龋齿的 AMELX 突变。在这项研究中，对来自九个法国医院组的 399 名广泛龋齿（250 名）或无龋齿（149 名）个体的 AMELX 编码外显子和外显子-内含子边界进行了测序。未发现导致釉原蛋白功能直接改变的突变。发现了 7 个单核苷酸多态性 (SNP)，其中 3 个具有高等位基因频率，1 个是首次发现。3 个 SNP 位于编码区，其中 2 个是非同义突变。进化和统计分析均表明，这些 SNP 均与龋齿易感性无关，表明在我们研究的人群中 AMELX 不是候选基因。
