RECETOX, Faculty of Science, Masaryk University, Kotlarska 2, Brno, Czech Republic.
Department of Burns and Plastic Surgery, Faculty of Medicine, Institution Shared With the University Hospital Brno, Masaryk University, Jihlavska 20, 62500, Brno, Czech Republic.
Clin Oral Investig. 2023 Apr;27(4):1681-1695. doi: 10.1007/s00784-022-04794-2. Epub 2022 Nov 24.
Dental caries is a widespread multifactorial disease, caused by the demineralization of hard dental tissues. Susceptibility to dental caries is partially genetically conditioned; this study was aimed at finding an association of selected single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in amelogenesis with this disease in children.
In this case-control study, 15 SNPs in ALOX15, AMBN, AMELX, KLK4, TFIP11, and TUFT1 genes were analyzed in 150 children with primary dentition and 611 children with permanent teeth with/without dental caries from the European Longitudinal Study of Pregnancy and Childhood (ELSPAC) cohort.
Dental caries in primary dentition was associated with SNPs in AMELX (rs17878486) and KLK4 (rs198968, rs2242670), and dental caries in permanent dentition with SNPs in AMELX (rs17878486) and KLK4 (rs2235091, rs2242670, rs2978642), (p ≤ 0.05). No significant differences between cases and controls were observed in the allele or genotype frequencies of any of the selected SNPs in ALOX15, AMBN, TFIP11, and TUFT1 genes (p > 0.05). Some KLK4 haplotypes were associated with dental caries in permanent dentition (p ≤ 0.05).
Based on this study, we found that although the SNPs in AMELX and KLK4 are localized in intronic regions and their functional significance has not yet been determined, they are associated with susceptibility to dental caries in children.
AMELX and KLK4 variants could be considered in the risk assessment of dental caries, especially in permanent dentition, in the European Caucasian population.
龋齿是一种广泛存在的多因素疾病，由硬组织脱矿引起。龋齿的易感性部分受遗传条件控制；本研究旨在寻找编码参与釉质形成的蛋白质的基因中的选定单核苷酸多态性（SNP）与儿童龋齿之间的关联。
在这项病例对照研究中，分析了来自欧洲妊娠和儿童纵向研究（ELSPAC）队列的 150 名乳牙和 611 名恒牙（有/无龋齿）儿童的 ALOX15、AMBN、AMELX、KLK4、TFIP11 和 TUFT1 基因中的 15 个 SNP。
乳牙龋齿与 AMELX（rs17878486）和 KLK4（rs198968、rs2242670）中的 SNP 相关，恒牙龋齿与 AMELX（rs17878486）和 KLK4（rs2235091、rs2242670、rs2978642）中的 SNP 相关，（p ≤ 0.05）。在 ALOX15、AMBN、TFIP11 和 TUFT1 基因中，任何选定的 SNP 的等位基因或基因型频率在病例和对照组之间均无显著差异（p > 0.05）。一些 KLK4 单倍型与恒牙龋齿相关（p ≤ 0.05）。
基于本研究，我们发现尽管 AMELX 和 KLK4 中的 SNP 位于内含子区域，其功能意义尚未确定，但它们与儿童龋齿易感性相关。
在欧洲白种人群中，AMELX 和 KLK4 变体可用于评估龋齿的风险，尤其是恒牙龋齿的风险。
