Enamel Formation Genes Are Associated with High Caries Experience in Turkish Children

Abstract

There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes and their interaction with Streptococcus mutans levels may contribute to caries. For the present study, we used DNA samples collected from 173 unrelated children from Istanbul: 91 children with 4 or more affected tooth surfaces and 82 caries-free children. Six single-nucleotide polymorphism markers were genotyped in selected candidate genes (ameloblastin, amelogenin, enamelin, tuftelin 1 and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Regression analysis was used for the evaluation of individual gene effects, environmental effects and gene-environment interactions. Overrepresentation of the C allele of the amelogenin marker was seen in cases with dmft scores higher than 8 (p = 0.01) when compared to controls. Also, overrepresentation of the T allele of the ameloblastin marker was seen in cases with dmfs scores higher than 10 (p = 0.05) when compared to controls. In addition, the CT genotype of the tuftelin rs3790506 marker was overrepresented in cases with dmft scores higher than 5 (p = 0.05) and dmfs scores higher than 6 (p = 0.05) compared to controls. The best-fitting model showed that dmfs is increased when the following factors are present: (1) females and both the anterior and posterior teeth are affected simultaneously, (2) when the T allele of the tuftelin rs3790506 is involved, and (3) the C allele of the amelogenin rs17878486 is involved. Our study provides support that genes involved in enamel formation modify caries susceptibility in humans.

Chosen single nucleotide polymorphisms (SNPs) of enamel formation genes and dental caries in a population of Polish children

“…5,7,11 On the other hand, Patir et al observed an overrepresentation of the minor T allele in rs34538475 in caries experienced individuals in comparison to controls, regardless of the stage of the disease. 4 In our study, however, we observed an opposite association, as both the minor T allele (p < 0.0001) and the minor TT homozygote (p < 0.0001) were overrepresented in controls in comparison to cases with caries, which supported the T allele as a protective variant. There were no differences in allele and genotype frequency between caries experienced and caries-free children in rs4694075 for AMBN gene in our study.…”

“…Patir et al observed an overrepresentation of the CC genotype in caries individuals (Turkish population), which is in contradiction with our results, where the major CC genotype turned out to be protective against caries occurrence. 4 On the other hand, Abbasoğlu et al found no association between the same AMELX polymorphism and caries susceptibility in Turkish children. 5 There were also no associations between amelogenin genetic variants and dental caries experience in other studies performed on Polish, French, Caucasian, and Japanese populations.…”

“…1,[4][5][6][7][8][9][10][11][12] The present study is limited to Polish Caucasian children and, to the best of our knowledge, our study is the first one concerning the genetic aspect of dental caries to be performed on such a homogenous population in Poland. It is well established that multiple environmental as well as genetic factors contribute to caries.…”

“…11 Several studies showed an association between other 2 markers (rs3790506 and rs4970957) for TUFT1 gene and caries experience, while in our study there were no differences in genotype and allele distribution or the results were inconclusive. 4,5,10 It is worth mentioning that in most of the studies concerning genetic variation of tuftelin and caries, an association could only be detected when the interaction with Streptococcus mutans was included in the model. Therefore, it is difficult to estimate whether the contradictory results are due to the differences in ethnicity and age of the participants or to the lack of information about S. mutans level, which was not possible to analyze in our research because of some technical obstacles.…”

“…Literature data describes possible association between the genes responsible for production of different enamel proteins and dental caries occurrence. 1,[4][5][6][7][8][9][10][11][12][13] Mature tooth enamel consists almost completely of inorganic material (above 90%). However, during the development it is composed of organic matrix, which is mostly replaced by mineral compounds.…”