Polymorphisms in Nonamelogenin Enamel Matrix Genes Are Associated with Dental Fluorosis

Caries Res. 2018;52(1-2):1-6. doi: 10.1159/000479826. Epub 2017 Dec 6.


The aim of this study was to evaluate whether genetic polymorphisms in AMELX, AMBN, ENAM, TFIP11, and TUFT1 genes are associated with dental fluorosis (DF). A total of 1,017 children from 2 Brazilian cohorts were evaluated. These populations lived in cities with fluoridation of public water supplies. DF was assessed in erupted permanent teeth using the modified Dean index. The polymorphisms rs946252, rs12640848, rs4694075, rs5997096, and rs4970957 were analyzed by real-time PCR from genomic DNA. Associations between DF, genotype, and allele distribution were evaluated using the χ2 test, with an alpha of 5%. The polymorphisms rs4694075, rs5997096, and rs4970957 in AMBN, TFIP11, and TUFT1 were associated with DF (p < 0.05). In conclusion, enamel matrix genes are associated with DF.

Keywords: Caries; Dental fluorosis; Polymorphism.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amelogenin / genetics
  • Child
  • Dental Enamel Proteins / genetics*
  • Extracellular Matrix Proteins / genetics
  • Female
  • Fluorosis, Dental / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Nuclear Proteins / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • RNA Splicing Factors
  • Real-Time Polymerase Chain Reaction


  • AMBN protein, human
  • AMELX protein, human
  • Amelogenin
  • Dental Enamel Proteins
  • ENAM protein, human
  • Extracellular Matrix Proteins
  • Nuclear Proteins
  • RNA Splicing Factors
  • TFIP11 protein, human
  • enamel matrix proteins
  • tuftelin