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Öğe 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 RezendeThere 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.Öğe 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 RezendeCaries 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.Öğe Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay(BMC, 2014) Weber, Megan L.; Hsin, Hong-Yuan; Kalay, Ersan; Brozkova, Dana Safka; Shimizu, Takehiko; Bayram, Merve; Deeley, Kathleen; Kuchler, Erika Calvano; Forella, Jessalyn; Ruff, Timothy; Trombetta, Vanessa M.; Sencak, Regina C.; Hummel, Michael; Briseno-Ruiz, Jessica; Revu, Shankar; Granjeiro, Jose Mauro; Antunes, Leonardo Dos Santos; Alves Antunes, Livia Azeredo; Abreu, Fernanda; Costa, Marcelo Castro; Tannure, Patricia Nivoloni; Koruyucu, Mine; Patır, Aslı; Poletta, Fernando; Mereb, Juan C.; Castilla, Eduardo Enrique; Orioli, Leda M.; Marazita, Mary L.; Ouyang, Hongjiao; Jayaraman, Thottala; Seymen, Figen; Vieira, Alexandre RezendeBackground: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. Methods: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. Results: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. Conclusions: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.Öğe Role of TRAV locus in low caries experience(Springer, 2013) Briseno-Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper; Ruff, Timothy; Faraco, Italo; Poletta, Fernando; Brancher, Joao; Pecharki, Giovana; Kuechler, Erika; Tannure, Patricia; Lips, Andrea; Vieira, Thays; Patir, Asli; Koruyucu, Mine; Mereb, Juan; Resick, Judith; Brandon, Carla; Letra, Ariadne; Silva, Renato; Cooper, Margaret; Seymen, Figen; Costa, Marcelo; Granjeiro, Jose; Trevilatto, Paula; Orioli, Ieda; Castilla, Eduardo; Marazita, Mary; Vieira, AlexandreCaries is the most common chronic, multifactorial disease in the world today; and little is still known about the genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified five loci related to caries susceptibility: 5q13.3, 13q31.1, 14q11.2, 14q 24.3, and Xq27. In the present study, we fine mapped the 14q11.2 locus to identify genetic contributors to caries susceptibility. Four hundred seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. An additional 387 DNA samples from unrelated individuals were used to determine allele frequencies. For replication purposes, a total of 1,446 independent subjects from four different populations were analyzed based on their caries experience (low versus high). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission of alleles in the Filipino families, and Chi-square, Fisher's exact and logistic regression were used to test for association between low caries experience and variant alleles in the replication data sets. We finally assessed the mRNA expression of TRAV4 in the saliva of 143 study subjects. In the Filipino families, statistically significant associations were found between low caries experience and markers in TRAV4. We were able to replicate these results in the populations studied that were characteristically from underserved areas. Direct sequencing of 22 subjects carrying the associated alleles detects one missense mutation (Y30R) that is predicted to be probably damaging. Finally, we observed higher expression in children and teenagers with low caries experience, correlating with specific alleles in TRAV4. Our results suggest that TRAV4 may have a role in protecting against caries.
