title: 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.
authors.affiliation: Department of Pediatric Dentistry, School of Dentistry of Araraquara, São Paulo State University (UNESP), Araraquara, SP, Brazil.
authors.forename: Fabiano
authors.initials: F
authors.lastname: Jeremias
authors.forename: Mine
authors.initials: M
authors.lastname: Koruyucu
authors.forename: Erika C
authors.initials: EC
authors.lastname: Küchler
authors.forename: Merve
authors.initials: M
authors.lastname: Bayram
authors.forename: Elif B
authors.initials: EB
authors.lastname: Tuna
authors.forename: Kathleen
authors.initials: K
authors.lastname: Deeley
authors.forename: Ricardo A
authors.initials: RA
authors.lastname: Pierri
authors.forename: Juliana F
authors.initials: JF
authors.lastname: Souza
authors.forename: Camila M B
authors.initials: CM
authors.lastname: Fragelli
authors.forename: Marco A B
authors.initials: MA
authors.lastname: Paschoal
authors.forename: Koray
authors.initials: K
authors.lastname: Gencay
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.forename: Raquel M S
authors.initials: RM
authors.lastname: Caminaga
authors.forename: Lourdes
authors.initials: L
authors.lastname: dos Santos-Pinto
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000328:Adult; D000566:Amelogenesis / Q000235:genetics*; D053523:Amelogenin; D001938:Brazil; D016022:Case-Control Studies; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D003746:Dental Enamel Proteins / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D011506:Proteins / Q000235:genetics; D000072260:RNA Splicing Factors; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors; D013295:Streptococcus mutans / Q000235:genetics; D014421:Turkey; D055815:Young Adult
chemical_list: C490889:AMBN protein, human; C507199:AMELX protein, human; D053523:Amelogenin; D003746:Dental Enamel Proteins; C550525:ENAM protein, human; D016326:Extracellular Matrix Proteins; D009687:Nuclear Proteins; D011506:Proteins; D000072260:RNA Splicing Factors; C485860:TFIP11 protein, human; C038456:tuftelin
keywords: Amelogenesis; Dental caries; Dental caries susceptibility; Dental enamel; Dental enamel hypoplasia