Early Childhood Caries Is Associated with Genetic Variants in Enamel Formation and Immune Response Genes

Abstract

Early childhood caries (ECC) is a chronic, infectious disease that affects the primary dentition of young children. It is the result of an imbalance of risk factors and protective factors that influence the disease. The aim of this study was to assess genetic and environmental factors that may contribute to ECC. Two hundred and fifty-nine unrelated children were evaluated using a cross-sectional design. Data on oral habits were obtained through a questionnaire, and caries experience data were collected by clinical examination. Twenty-three markers in 10 genes were studied. Genotyping of the selected polymorphisms was carried out by real-time PCR. Regression analyses were performed comparing individuals with and without caries experience. Of 259 subjects, 123 were caries free. The genotype TT in ALOX15 (rs7217186) was a risk factor for ECC, whereas the genotypes GG in ENAM (rs1264848), AG and GG in KLK4 (rs198968), CT in LTF (rs4547741), and GG in TUFT1 (rs3790506) were protective for EEC.In conclusion, environmental factors and gene interactions can act as protective or risk factors for ECC. These factors together contribute to the presence and severity of the disease.

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

“…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. [6][7][8]12 However, studied SNPs for AMELX gene and the age of children were different from those chosen for our study, also the studied populations were heterogeneous regarding demographic origins and cultural diversity.…”

“…21 Abbasoğlu et al, Deeley et al and Slayton et al did not find association between AMBN genetic variants and caries experience in Turkish, Guatemalan-Mayan and mixed populations, respectively, although Slayton et al noticed that out of the children who participated in the study, Caucasian children had the greatest severity of the disease. 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.…”

“…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.…”