title: PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area.
abstract: OBJECTIVE
  To search for variants of PAX6 gene in patients with nonsyndromic supernumerary teeth in the maxillary incisor area (NSST) and compare genotypes and allele frequencies of the detected polymorphisms between the patients and controls.
  
  
  METHODS
  Twenty children with NSST and 31 controls were included. Genomic DNA was extracted from buccal epithelial cells of each individual. Sequencing analysis of all exons and exon/intron boundaries of PAX6 gene were performed in patients. Genotypes and allele frequencies of the single nucleotide polymorphisms detected in patients were compared between the two groups using chi-square tests.
  
  
  RESULTS
  Of the 20 patients examined, six showed heterozygous for rs667773 and rs3026393 simultaneously. Among them, four possessed two supernumerary teeth and the other two possessed one. Another six patients showed heterozygous for rs3026393, five of which possessed only one supernumerary tooth and the other one possessed two. Of another six patients with homozygous rs3026393, three possessed one supernumerary tooth and the other three possessed two. The distributions of genotypes and alleles frequencies of single nucleotide polymorphisms rs667773 and rs3026393 showed no significant difference between the two groups.
  
  
  CONCLUSIONS
  The present study did not find evidence of PAX6 polymorphisms being associated with supernumerary teeth in the population studied.
authors.affiliation: Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Hai-Hua
authors.initials: HH
authors.lastname: Lei
authors.forename: He
authors.initials: H
authors.lastname: Liu
authors.forename: Li-Hong
authors.initials: LH
authors.lastname: Ge
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006147:Guanine; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D007438:Introns / Q000235:genetics; D008297:Male; D008437:Maxilla; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013941:Thymine; D014096:Tooth, Supernumerary / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D006147:Guanine; D003596:Cytosine; D013941:Thymine