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    Enamel formation genes influence enamel microhardness before and after cariogenic challenge
    (Public Library Science, 2012) Shimizu, Takehiko; Ho, Bao; Deeley, Kathleen; Briseno-Ruiz, Jessica; Faraco, Italo Medeiros; Schupack, Brett Ian; Brancher, Joäo Armando; Pecharki, Giovana Daniela; Küchler, Erika Calvano; Tannure, Patrícia Nivoloni; Lips, Andrea; Vieira, Thays Cristinedos Santos; Patır, Aslı; Yıldırım, Mine; Poletta, Fernando Adrián; Mereb, Juan Carlos; Resick, Judith M.; Brandon, Carla A.; Orioli, Ieda M.; Castilla, Eduardo Enrique; Marazita, Mary Louise; Seymen, Figen; Costa, Marcelo Costra; Granjeiro, José Mauro; Trevilatto, Paula Cristina; Vieira, Alexandre Rezende
    There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes may contribute to caries. For the present study, we used DNA samples collected from 1,831 individuals from various population data sets. Single nucleotide polymorphism markers were genotyped in selected genes (ameloblastin, amelogenin, enamelin, tuftelin, and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Associations with caries experience can be detected but they are not necessarily replicated in all population groups and the most expressive results was for a marker in AMELX (p = 0.0007). To help interpret these results, we evaluated if enamel microhardness changes under simulated cariogenic challenges are associated with genetic variations in these same genes. After creating an artificial caries lesion, associations could be seen between genetic variation in TUFT1 (p = 0.006) and TUIP11 (p = 0.0006) with enamel microhardness. Our results suggest that the influence of genetic variation of enamel formation genes may influence the dynamic interactions between the enamel surface and the oral cavity.
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    Fine-Mapping of 5q12.1-13.3 unveils new genetic contributors to caries
    (Karger, 2013) Shimizu, Takehiko; Deeley, Kathleen; Briseno Ruiz, Jessica; Faraco, Italo Medeiros; Poletta, Fernando Adrian; Brancher, Joao Armando; Pecharki, Giovana Daniela; Kuechler, Erika Calvano; Tannure, Patricia Nivoloni; Lips, Andrea; Vieira, Thays Cristinedos Santos; Patır, Aslı; Yıldırım, Mine; Mereb, Juan Carlos; Resick, Judith; Brandon, Carla; Cooper, Margaret; Seymen, Figen; Costa, Marcelo de Castro; Granjeiro, Jose Mauro; Trevilatto, Paula Cristina; Orioli, Ieda Maria; Castilla, Eduardo Enrique; Marazita, Mary Louise; Vieira, Alexandre Rezende
    Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1-5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.
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    Genetic mapping of high caries experience on human chromosome 13
    (BMC, 2013) Küchler, Erika Calvano; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; Noel, Jacqueline; Kouzbari, M. Zahir; Bezamat, Mariana; Granjeiro, José Mauro; Antunes, Leonardo Santos; Antunes, Lívia Azeredo Alves; Abreu, Fernanda Volpe De; Meneghim, Marcelo de Castro; Tannure, Patrícia Nivoloni; Seymen, Figen; Koruyucu, Mine; Patır, Aslı; Mereb, Juan Carlos; Poletta, Fernando Adrián; Castilla, Eduardo Enrique; Orioli, Iêda Maria; Marazita, Mary Louise; Vieira, Alexandre Rezende
    Background: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.