Genes expressed in dental enamel development are associated with molar-incisor hypomineralization

Abstract

Genetic disturbances during dental development influence variation of number and shape of the dentition. In this study, we tested if genetic variation in enamel formation genes is associated with molar-incisor hypomineralization (MIH), also taking into consideration caries experience. DNA samples from 163 cases with MIH and 82 unaffected controls from Turkey, and 71 cases with MIH and 89 unaffected controls from Brazil were studied. Eleven markers in five genes [ameloblastin (AMBN), amelogenin (AMELX), enamelin (ENAM), tuftelin (TUFT1), and tuftelin-interacting protein 11 (TFIP11)] were genotyped by the TaqMan method. Chi-square was used to compare allele and genotype frequencies between cases with MIH and controls. In the Brazilian data, distinct caries experience within the MIH group was also tested for association with genetic variation in enamel formation genes. The ENAM rs3796704 marker was associated with MIH in both populations (Brazil: p=0.03; OR=0.28; 95% C.I.=0.06–1.0; Turkey: p=1.22e–012; OR=17.36; 95% C.I.=5.98–56.78). Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample. Several genes involved in enamel formation appear to contribute to MIH.

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

“…It is worth mentioning that genetic variants, even as subtle as single nucleotide polymorphisms in intronic region, in candidate enamel formation genes in this study, have been reported to influence other dental conditions, such as amelogenesis imperfecta or molar-incisor hypomineralization. 23 It strongly supports the hypothesis that even minor alterations in gene structure could influence protein function and impact the enamel growth and mineralization and, therefore, alter individual's susceptibility to caries alongside of the environmental factors. Another possibility is that the SNPs could be in linkage to genetic variants outside the region of interest, but testing the actual influence of non-coding SNPs on protein function and analysis of linkage disequilibrium throughout the genome is still not a simple task.…”

Molar-incisor hypomineralization: Therapeutic challenge to paediatric dentistry practice

“…Recent research has indicated that etiology of MIH is multicasual and that genetic variations can, in combination with different environmental factors, play a significant role in the occurrence of these structural enamel defects 20 . Clinical manifestation of MIH shows great variability in the number of affected teeth and severity of hypomineralized changes.…”

Current View on the Diagnosis and Treatment of Molar Incisor Hypomineralization

“…Bu olay mine kristallerinin enine büyümesini hızlandırarak genişliğinin artması-nı sağlamaktadır. KLK4 geninde meydana gelen mutasyonların da BAKH oluşumunda rol oynadığı yapılan çalışmalarla desteklenmiştir (26,27). Yapılan bir başka araştırmaya göre BAKH üzerinde etkili olan bir başka protein ise SCUBE1 proteinidir (28).…”