title: Significance of genetic variations in developmental enamel defects of primary dentition in Polish children.
abstract: OBJECTIVE
  The aim of the study was to reveal the association between developmental defects of enamel (DDE) and single nucleotide polymorphisms (SNPs) in the ENAM, AMELX, AMBN, TUFT1, and TFIP11 genes.
  
  
  METHODS
  The molecular analysis was carried out in 52 children, aged 10-42 months, from four nursery schools situated in the region of Poznan, Poland (26 individuals with hypomineralization and/or hypoplasia of enamel - "cases" and 26 unaffected children - "controls"), chosen from 262 individuals that had prior dental examination. Six selected SNP variants (rs17878486 in AMELX, rs4694075 in AMBN, rs3796704 in ENAM, rs134136 and rs5997096 in TFIP11, and rs3790506 in TUFT1) were genotyped by the TaqMan probes assay. Genotype and allele frequencies were calculated, and a standard chi-squared analysis was used to test for deviation from Hardy-Weinberg equilibrium. The association between genetic variations and developmental defects of enamel was assessed by the Fisher's exact test and p ≤ 0.05 was considered statistically significant.
  
  
  RESULTS
  Statistically significant positive correlations were found between the rare T allele (p = 0.005) and the TT genotype (p = 0.0052) for rs17878486 in AMELX and occurrence of developmental enamel defects in primary dentition of children. For rs4694075 in AMBN, a higher incidence of the rare T allele (p = 0.0157) was observed in controls compared to DDE cases, whereas the wild-type CC homozygote was more frequent in DDE cases than in controls (p = 0.0062).
  
  
  CONCLUSIONS
  The study showed that the single nucleotide polymorphisms in the AMELX and AMBN genes may be genetic variants that contribute to developmental defects of enamel in primary dentition of children.
  
  
  CONCLUSIONS
  The single nucleotide polymorphisms of enamel formation genes may increase the risk for developmental defects of enamel (DDE) occurrence in primary dentition in children.
authors.affiliation: Department of Pediatric Dentistry, Poznan University of Medical Sciences, 70 Bukowska Street, 60-812, Poznan, Poland. karolinagerreth@poczta.onet.pl.
authors.forename: Karolina
authors.initials: K
authors.lastname: Gerreth
authors.affiliation: Department of Histology and Embryology, Poznan University of Medical Sciences, 6 Swiecickiego Street, 61-781, Poznan, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Zaorska
authors.affiliation: Department of Histology and Embryology, Poznan University of Medical Sciences, 6 Swiecickiego Street, 61-781, Poznan, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Zabel
authors.affiliation: Department of Histology and Embryology, Poznan University of Medical Sciences, 6 Swiecickiego Street, 61-781, Poznan, Poland.
authors.forename: Michal
authors.initials: M
authors.lastname: Nowicki
authors.affiliation: Department of Pediatric Dentistry, Poznan University of Medical Sciences, 70 Bukowska Street, 60-812, Poznan, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Borysewicz-Lewicka
mesh_terms: D053523:Amelogenin / Q000235:genetics*; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D003746:Dental Enamel Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D014094:Tooth, Deciduous
chemical_list: C490889:AMBN protein, human; C507199:AMELX protein, human; D053523:Amelogenin; D003746:Dental Enamel Proteins
keywords: Children; Developmental defects; Enamel; Nursery school; Primary teeth