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OBJECTIVE: The role of oestrogen in craniofacial growth still remains unclear. Therefore, the present study aimed to assess the effect of oestrogen deficiency on maxilla and mandible dimensions. SETTING AND SAMPLE POPULATION: The study was conducted at the Department of Pediatric Dentistry at the School of Dentistry of Ribeirão Preto, University of São Paulo, and used forty female Wistar rats. MATERIAL AND METHODS: Ovariectomy (OVX) and placebo surgery (Sham) were performed when animals were twenty-one days old (prepubertal stage). Dimensions of the maxilla and mandible were assessed by craniometric analysis using radiographs, during and after puberty of the animals (45 and 63 days old, respectively). Quantitative real-time PCR and immunohistochemical analyses were performed to determine the expression and localization, respectively, of oestrogen receptor alpha (ERα) and oestrogen receptor beta (ERß) in different growth sites of the evaluated structures at puberty. The differences between the groups for each outcome were evaluated using the t test with an established alpha error of 5%. RESULTS: There were significant differences between the OVX and Sham groups for horizontal and vertical linear measurements in the maxilla and the mandible at both pubertal and post-pubertal stages (P < .05). The ovariectomized rats showed significantly greater measures for all dimensions assessed. No differences in gene expression of ERα and ERß were identified at the different growth sites between the OVX and Sham groups (P > .05). Immunohistochemical analyses revealed the presence of both oestrogen receptors in osteoblasts and chondrocytes in the midpalatal suture and mandibular condyle, respectively, in the OVX and Sham groups. CONCLUSION: Our results suggest that oestrogen deficiency from the prepubertal stage might increase the growth of the maxilla and mandible in female rats.
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Maxilar , Maduración Sexual , Animales , Niño , Femenino , Humanos , Mandíbula , Ovariectomía , Ratas , Ratas WistarRESUMEN
OBJECTIVES: The aim of this study is to evaluate the association between the single nucleotide polymorphism (SNP) rs4284505 within the gene that codifies microRNA17 (miRNA17) and dental fluorosis (DF) in a group of children. METHODS: Children living in a city with fluoridation of public water supplies were included. DF was assessed in erupted permanent teeth by Dean's modified index. The miR-SNP rs4284505 was selected in miRNA17 and genotyping was carried out by real-time PCR. Genotype and allelic distributions between DF and control, and between DF phenotypes (mild, moderate and severe) and control were analysed. RESULTS: Among a total of 527 children enrolled for the study, 383 were DF free and 144 presented DF. In the dominant model analysis (AA + AG vs. GG) the miR-SNP rs4284505 was associated with moderate DF, with carriers of the GG genotype having an increased risk of more than two times for DF (p = 0.031; Odds Ratio = 2.26, Confidence Interval 95%= 1.04-4.73). Allelic distribution showed borderline statistical significance for moderate DF with the carriers of G allele having an increased risk for DF (p = .050; Odds Ratio = 1.75, Confidence Interval 95%= 1.00-3.12). CONCLUSION: The miR-SNP rs4284505 in miRNA17 was associated with an increased risk of DF.
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Fluorosis Dental , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Alelos , Niño , Fluorosis Dental/genética , Genotipo , Humanos , FenotipoRESUMEN
BACKGROUND & AIM: To investigate the association between the genetic polymorphisms FokI (rs2228570) and BglI (rs739837) in vitamin D receptor (VDR) with dental caries and gingivitis susceptibility. DESIGN: This study included 353 Brazilian children (8 to 11 years old). Dental caries was assessed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingival bleeding using Community Periodontal Index (CPI). The presence of visible biofilm was also evaluated. DNA was extracted from saliva, and real-time PCR was used to evaluate genetic polymorphisms in VDR: rs2228570 (FokI, A>G/Met>Thr) and rs739837 (BglI, G>T). Dental caries was evaluated as a continuous data (mean and standard deviation-SD) and was also categorized (ICDAS0 versus ICDAS1-6 or ICDAS1-2 versus ICDAS3-6). Gingivitis was categorized in with and without. One-way ANOVA was used for comparisons of caries among genotypes. Chi-square test, logistic regression, and haplotype analysis were performed (P < .05). RESULTS: Biofilm was associated with dental caries susceptibility and gingivitis (P < .05). The mean distribution of the caries lesions and cavitated caries lesions among FokI and BgII genotypes were not statistically significant (P > .05). Genotype distributions among caries groups (in the two different cut-offs) and among gingivitis and non-gingivitis groups were not statistically significant (P > .05). CONCLUSION: The polymorphisms FokI and BglI in VDR were not associated with dental caries or gingivitis.
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Caries Dental , Gingivitis , Brasil , Niño , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Polimorfismo Genético , Receptores de Calcitriol/genéticaRESUMEN
INTRODUCTION: This study aimed to determine whether single nucleotide polymorphisms in the growth hormone receptor (GHR) and insulin-like growth factor 2 receptor (IGF2R) genes are associated with different craniofacial phenotypes. METHODS: A total of 596 orthodontic and 98 orthognathic patients from 4 cities in Brazil were included for analyses. Angular and linear cephalometric measurements were obtained, and phenotype characterizations were performed. Genomic DNA was collected from buccal cells and single nucleotide polymorphisms in GHR (rs2910875, rs2973015, rs1509460) and IGF2R (rs2277071, rs6909681, rs6920141) were genotyped by polymerase chain reactions using TaqMan assay. Genotype-phenotype associations were assessed in the total sample (statistical significance was set at P <8.333 × 10-3) and by a meta-analytic approach implemented to calculate the single effect size measurement for the different cohorts. RESULTS: Rare homozygotes for the GHR rs2973015 showed increased measurements for the lower anterior facial height (ANS-Me) and mandibular sagittal lengths (Co-Gn and Go-Pg). In contrast, common homozygotes for the IGF2R rs6920141 presented reduced measurements for these dimensions (ANS-Me and Go-Pg). Furthermore, the less common homozygotes for IGF2R rs2277071 had reduced maxillary sagittal length (Ptm'-A'). The meta-analytical approach replicated the associations of rs2973015 with ANS-Me, rs2277071 with Ptm'-A', and rs6920141 with Go-Pg. CONCLUSIONS: Our results provide further evidence that GHR contributes to the determination of mandibular morphology. In addition, we report that IGF2R is a possible gene associated with variations in craniofacial dimensions. Applying meta-analytical approaches to genetic variation data originating from likely underpowered samples may provide additional insight regarding genotype and/or phenotype associations.
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Proteínas Portadoras , Mucosa Bucal , Receptor IGF Tipo 2 , Receptores de Somatotropina , Brasil , Proteínas Portadoras/genética , Cefalometría , Humanos , Mandíbula , Polimorfismo de Nucleótido Simple/genética , Receptor IGF Tipo 2/genética , Receptores de Somatotropina/genéticaRESUMEN
OBJECTIVES: The aim of this study was investigate the association between genetic polymorphisms in ESR1, ESR2, and ESRRB and dental fluorosis (DF) in a well-characterized sample of children from Curitiba, Brazil. MATERIAL AND METHODS: From a representative sample of 538 children, 12-year-old were evaluated. DF was assessed in erupted permanent teeth by the Dean's index modified. Fourteen polymorphisms were selected in intronic and intergenic regions of ESR1, ESR2, and ESRRB and genotyped in genomic DNA source from saliva using TaqMan chemistry and end-point analysis. Allele and genotype distributions between DF and DF free groups were analyzed using the Epi Info 7.2. Chi-square or Fisher's exact tests at a level of significance of 5% and odds ratios calculations with 95% confidence intervals were used to determine the statistical associations. RESULTS: Among 538 children, 147 were DF and 391 were DF free. Genotype distribution for the polymorphism rs12154178 in ESR1 was different between the two groups (p = 0.037; OR = 0.91; CI = 0.67-1.22). The dominant model analysis (AA+AC vs. CC) demonstrated that CC is a protective factor for DF (p = 0.038; OR = 0.51, 0.27-0.97 95% CI). We did not find differences in frequency distributions in the other evaluated polymorphisms. CONCLUSION: This study provides evidence that ESR1 is associated with DF. CLINICAL RELEVANCE: Dental fluorosis is an important condition that affects the mineralized tissues of the teeth. In severe cases, the treatment takes time and is extremely costly. This research provides evidences that there are genetic factors involved in dental fluorosis and will help professionals to plan more precise strategies to reduce dental fluorosis occurrence.
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Receptor alfa de Estrógeno/genética , Receptor beta de Estrógeno/genética , Fluorosis Dental , Receptores de Estrógenos , Alelos , Brasil , Niño , Fluorosis Dental/genética , Genotipo , Humanos , Receptores de Estrógenos/genéticaRESUMEN
BACKGROUND: Oestrogen (ES) and growth hormone (GH) are hormones that may have a role in caries aetiology and developmental defects of enamel (DDE) since their receptors (ERs and GHR) are expressed during amelogenesis. AIM: To evaluate whether genetic polymorphisms in the genes that codify the ERα (ESR1) and GHR are associated with caries experience and DDE in children. DESIGN: Two hundred and sixteen children of both genders, aged 9-12 years, were examined and classified according to caries and DDE phenotype. Genomic DNA was extracted from buccal cells in saliva. Genetic polymorphisms in ERS1 (rs1884051 and rs12154178) and GHR (rs297305, rs2940913, rs2910875, and rs1509460) were genotyped using TaqMan chemistry. Data were analysed by PLINK, while the chi-square test was used to compare allele and genotype distributions (alpha of 5%). RESULTS: A total of 131 children (60.7%) had caries experience, and 43 (19.9%) presented DDE. Genotype and allele distributions were not associated with caries experience (P > 0.05). Genotype and allele distributions between DDE, affected and unaffected, were associated with the polymorphism rs12154178 in ESR1 (P = 0.01 and P = 0.001, respectively) and with the polymorphism rs1509460 in GHR (P = 0.05 and P = 0.02, respectively). CONCLUSIONS: Genetic polymorphisms in ERS1 (rs12154178) and GHR (rs1509460) are associated with DDE.
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Caries Dental/genética , Esmalte Dental/anomalías , Receptor alfa de Estrógeno/genética , Polimorfismo Genético , Receptores de Somatotropina/genética , Niño , Femenino , Genotipo , Humanos , MasculinoRESUMEN
BACKGROUND/AIMS: Tooth avulsion consists of the complete displacement of a tooth from the alveolar socket. When immediate replantation is not possible, the avulsed tooth should be kept in a storage medium capable of maintaining the viability of periodontal ligament (PDL) cells on the root surface. However, there is no consensus on the best storage medium able to prevent sequels such as ankylosis and tooth resorption. The aim of this study was to perform a systematic review to evaluate the in vivo effectiveness of different storage media for avulsed teeth. METHODS: Two reviewers performed a database search for studies published between January 1950 and December 2015 which were indexed in the PubMed, Scopus, Web of Science, and Bireme databases. An additional manual search was performed. Studies with animal models that evaluated tooth avulsion, storage media, and replantation were included. After full-text analysis of the potentially relevant studies, the selected studies were included in the systematic review. RESULTS: The database search found 157 distinct studies evaluating avulsed teeth storage media. However, only six studies met the selection criteria and were included in the review. There was a high variability in the study estimates for the parameters analyzed. When assessing the quality and level of evidence of each study, one study was rated as having a very low level of evidence, four studies had low levels of evidence, and one had a moderate level of evidence. CONCLUSION: As a result of data heterogeneity and limitations of the studies, there was insufficient evidence to determine the most effective storage medium for avulsed teeth.
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Modelos Animales , Soluciones Preservantes de Órganos/farmacología , Manejo de Especímenes/métodos , Avulsión de Diente , AnimalesRESUMEN
Clinically, primary and permanent teeth are distinct anatomically and the presentation of caries lesions differs between the two dentitions. Hence, the possibility exists that genetic contributions to tooth formation of the two dentitions are different. The purpose of this study was to test the hypothesis that genetic associations with an artificial caries model will not be the same between primary and permanent dentitions. Enamel samples from primary and permanent teeth were tested for microhardness at baseline, after carious lesion creation, and after fluoride application to verify association with genetic variants of selected genes. Associations were found between genetic variants of ameloblastin, amelogenin, enamelin, tuftelin, tuftelin interactive protein 11, and matrix metallopeptidase 20 and enamel from permanent teeth but not with enamel from primary teeth. In conclusion, our data continue to support that genetic variation may impact enamel development and consequently individual caries susceptibility. These effects may be distinct between primary and permanent dentitions.
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Bone morphogenetic proteins (BMPs) play an important role during the initial process of enamel development and therefore may play a role in caries susceptibility. The purpose of this study was to evaluate the association between the polymorphisms in the BMP2, BMP4 and BMP7 genes and their association with caries experience and primary enamel microhardness characteristics. DNA from buccal cells as well as clinical and demographic information from 1,731 subjects from three different data sets from Brazil were included. Polymorphisms in BMP2, BMP4 and BMP7 were analyzed by real-time polymerase chain reaction from genomic DNA. Association between caries experience, genotype, and allele distribution in both cohorts was evaluated using χ(2) and logistic regression analyses. In the family-based set, the association between caries experience and alleles was tested using the transmission disequilibrium test. In the Rio de Janeiro cohort, microhardness data on 108 exfoliated primary teeth before and after demineralization and remineralization challenges was included. Associations between microhardness values and genotype and allele distribution were evaluated using χ(2) and logistic regression analyses. Differences between caries experience and some risk factors were statistically significant. In the cohort from Nova Friburgo, BMP2 was associated with caries experience in primary dentition during logistic regression analysis (p = 0.023; OR = 2.58; 95% CI 1.13-5.86). There was no association between genotype and allele distribution for BMP polymorphisms and primary enamel microhardness alterations. Our result suggests that BMP2 may be involved in caries experience in primary dentition from a Nova Friburgo cohort.
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Proteína Morfogenética Ósea 2/genética , Índice CPO , Caries Dental/enzimología , Polimorfismo Genético/genética , Diente Primario/enzimología , Adolescente , Proteína Morfogenética Ósea 4/genética , Proteína Morfogenética Ósea 7/genética , Brasil , Niño , Preescolar , Estudios de Cohortes , Caries Dental/genética , Dispositivos para el Autocuidado Bucal/estadística & datos numéricos , Esmalte Dental/anatomía & histología , Conducta Alimentaria , Femenino , Frecuencia de los Genes/genética , Variación Genética/genética , Genotipo , Dureza , Humanos , Lactante , Desequilibrio de Ligamiento/genética , Masculino , Polimorfismo de Nucleótido Simple/genética , Remineralización Dental , Cepillado Dental/estadística & datos numéricos , Adulto JovenRESUMEN
BACKGROUND: 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.
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Caries Dental/genética , Pérdida Auditiva Sensorineural/patología , Receptores de Estrógenos/genética , Desmineralización Dental/genética , Adolescente , Adulto , Animales , Línea Celular Tumoral , Niño , Preescolar , Cromosomas Humanos Par 14 , Esmalte Dental/crecimiento & desarrollo , Femenino , Estudios de Asociación Genética , Pérdida Auditiva Sensorineural/genética , Humanos , Desequilibrio de Ligamiento , Masculino , Ratones , Linaje , Polimorfismo de Nucleótido Simple , Receptores de Estrógenos/fisiología , Adulto JovenRESUMEN
OBJECTIVE: Caries is a common disease in humans and has a multifactorial etiology. It has been suggested that children born with cleft lip and/or palate (CL/P) have a higher susceptibility to caries, but data from several independent cohorts does not support this assumption. Previous work from our group suggested DEFB 1 is associated with higher caries experience. Since it is suspected that children born with CL/P have the same risk factors predisposing them to caries as other children of the same ages, the aim was to test if DEFB 1 was associated with caries experience in children born with CL/P. MATERIALS AND METHODS: Sixty-nine children born with CL/P (aged 2-12 years) were included. Twenty-seven males and seven females had cleft lip and palate (CLP), six males and seven females had cleft lip (CL) and 13 males and nine females had cleft palate (CP). Caries was evaluated with the DMFT/dmft index by a calibrated evaluator. Two single nucleotide polymorphisms in DEFB 1 were selected (rs11362 and rs1800972) based on being associated with higher caries experience in previous work. Genotyping were carried out by real-time PCR using the Taqman assay method. The statistical analysis was performed between 'low-to-moderate caries experience group' and the 'high caries experience group'. Odds ratio calculations between caries experience and variant alleles and chi-square of Fisher exact tests at a level of significance of 0.05 were used. RESULTS: There was no significant difference for caries experience between cleft types (p = 0.551). An association was found for the marker rs11362 and genotype distribution (p = 0.047). When analyzed in a recessive model, the genotype GG in this polymorphism increased the risk for caries susceptibility by more than 3-times (p = 0.031; OR = 3.16; 95% CI = 0.97-10.62). CONCLUSION: The genetic variant rs11362 in DEFB 1 influences caries susceptibility in CL/P children. The results support the hypothesis that expression of DEFB 1 in saliva may serve as a biomarker for future caries risk.
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Labio Leporino/genética , Fisura del Paladar/genética , Caries Dental/genética , Variación Genética , Regiones Promotoras Genéticas , beta-Defensinas/genética , Niño , Preescolar , Femenino , Humanos , Lactante , MasculinoRESUMEN
OBJECTIVE: Previous studies suggest individuals born with oral clefts and their families have a higher susceptibility for cancer, which raises the hypothesis that these two conditions share common molecular pathways. This study evaluated the association between oral clefts and polymorphisms in genes that play a role in craniofacial and tumor development. MATERIALS AND METHODS: Four hundred and ninety-seven subjects born with oral clefts and 823 unaffected subjects were recruited. Twenty-nine markers in 13 genes were genotyped by the Taqman method. Chi-square was used to compare allele and genotype frequencies. Bonferroni correction for multiple testing was used and the established alpha was 0.0003. This study also used logistic regression to test if genetic variants were associated with oral clefts using positive family history of cancer and age as covariates. RESULTS: There was no association between family history of cancer and oral clefts (p = 0.51). None of the 1320 study participants had a diagnosis of cancer at the time of participation in the study. The marker rs4980700 in FGF3 was associated with oral clefts (p = 0.0002). Logistic regression analysis also provided evidence for gene-gene interaction between FGF3 (rs4980700) and PAX9 (rs2073242), increasing the risk for isolated oral clefts (p = 0.0003). CONCLUSION: FGF3 is associated with oral clefts and may interact with PAX9.
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Carcinogénesis/genética , Labio Leporino/genética , Fisura del Paladar/genética , Factor 3 de Crecimiento de Fibroblastos/genética , Predisposición Genética a la Enfermedad/genética , Factor de Transcripción PAX9/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Epistasis Genética/genética , Femenino , Frecuencia de los Genes/genética , Variación Genética/genética , Genotipo , Humanos , Lactante , Masculino , Persona de Mediana Edad , Polimorfismo Genético/genética , Adulto JovenRESUMEN
BACKGROUND: There is evidence for a genetic contribution to chronic periodontitis. In this study, we conducted a genome wide association study among 866 participants of the University of Pittsburgh Dental Registry and DNA Repository, whose periodontal diagnosis ranged from healthy (N = 767) to severe chronic periodontitis (N = 99). METHODS: Genotypingi of over half-million single nucleotide polymorphisms was determined. Analyses were done twice, first in the complete dataset of all ethnicities, and second including only samples defined as self-reported Whites. From the top 100 results, twenty single nucleotide polymorphisms had consistent results in both analyses (borderline p-values ranging from 1E-05 to 1E-6) and were selected to be tested in two independent datasets derived from 1,460 individuals from Porto Alegre, and 359 from Rio de Janeiro, Brazil. Meta-analyses of the Single nucleotide polymorphisms showing a trend for association in the independent dataset were performed. RESULTS: The rs1477403 marker located on 16q22.3 showed suggestive association in the discovery phase and in the Porto Alegre dataset (p = 0.05). The meta-analysis suggested the less common allele decreases the risk of chronic periodontitis. CONCLUSIONS: Our data offer a clear hypothesis to be independently tested regarding the contribution of the 16q22.3 locus to chronic periodontitis.
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Mapeo Cromosómico , Cromosomas Humanos Par 16/genética , Periodontitis Crónica/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Cromosomas Humanos Par 21/genética , Periodontitis Crónica/etnología , Complicaciones de la Diabetes , Etnicidad/genética , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Fumar , Población Blanca/genéticaRESUMEN
[This corrects the article DOI: 10.1371/journal.pone.0288782.].
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Caries 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.
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Cromosomas Humanos Par 14/genética , Caries Dental/epidemiología , Caries Dental/genética , Genes Codificadores de la Cadena alfa de los Receptores de Linfocito T/genética , Predisposición Genética a la Enfermedad/genética , Secuencia de Bases , Cartilla de ADN/genética , Frecuencia de los Genes , Estudios de Asociación Genética , Sitios Genéticos/genética , Humanos , Patrón de Herencia/genética , Desequilibrio de Ligamiento , Modelos Logísticos , Datos de Secuencia Molecular , Mutación Missense/genética , Filipinas/epidemiología , Saliva/metabolismo , Análisis de Secuencia de ADNRESUMEN
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.
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Cromosomas Humanos Par 13 , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Pueblo Asiatico/genética , Sitios de Unión , Niño , Preescolar , Mapeo Cromosómico , Biología Computacional , Análisis Mutacional de ADN , Caries Dental/genética , Femenino , Genoma Humano , Genotipo , Haplotipos , Humanos , Lactante , Masculino , Persona de Mediana Edad , Linaje , Filipinas , Polimorfismo de Nucleótido Simple , Factores de Transcripción/metabolismo , Adulto JovenRESUMEN
The aim of this study is to evaluate if single nucleotide polymorphisms (SNPs) in WNT6 and WNT10A are associated with the risk of dental pulp calcification in orthodontic patients. This cross-sectional study followed the "Strengthening the Reporting of Genetic Association Studies" (STREGA) guidelines. Panoramic radiographs (pre- and post-orthodontic treatment) and genomic DNA from 132 orthodontic patients were studied. Dental pulp calcification (pulp stones and/or pulp space narrowing) was recorded in upper and lower first molars. The SNPs in WNT6 and WNT10A (rs7349332, rs3806557, rs10177996, and rs6754599) were assessed through genotyping analysis using DNA extracted from buccal epithelial cells. The association between pulp calcification and SNPs were analyzed using allelic and genotypic distributions and haplotype frequencies (p<0.05). Prevalence of dental pulp calcification was 42.4% in the 490 studied molars. In the genotypic analysis, the SNPs in WNT10A showed a statistically significant value for molar calcification (p = 0.027 for rs1017799), upper molar calcification (p = 0.040 for rs1017799) (recessive model), and molar calcification (p = 0.046 for rs3806557) (recessive model). In the allelic distribution, the allele C of the SNP rs10177996 in WNT10A was associated with molar calcifications (p = 0.042) and with upper first molar calcification (p = 0.035). Nine combinations of haplotypes showed statistically significant value (p<0.05). The findings of this study indicates that SNPs in WNT10A and WNT6 are associated with dental pulp calcification in molars after orthodontic treatment and may be considered as biomarkers for dental pulp calcification.
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Calcificaciones de la Pulpa Dental , Polimorfismo de Nucleótido Simple , Humanos , Estudios Transversales , Radiografía Panorámica , Diente Molar , Pulpa Dental , Proteínas Wnt/genéticaRESUMEN
INTRODUCTION: Skeletal abnormalities and malocclusions have varied features that impact populations globally, impairing aesthetics and lowering life quality. The prevalence of the Skeletal Class III disease is the lowest among all angle malocclusions, with varied prevalence across nations. Environmental, genetic, and societal factors play a role in its numerous etiologies. In this study, we conducted a thorough search across the published data relating to quantitative trait loci (QTL) and the genes associated with Class III progression in humans, discussed these findings and their limitations, and proposed future directions and strategies for studying this phenotype. METHODS: An inclusive search of published papers in the PubMed and Google Scholar search engines using the following terms: 1. Human skeletal Class III; 2. Genetics of Human skeletal Class III; 3. QTL mapping and gene associated with human skeletal Class III; 4. enriched skeletal Class-III-malocclusion-associated pathways. RESULTS: Our search has found 53 genes linked with skeletal Class III malocclusion reported in humans, genes associated with epigenetics and phenomena, and the top 20 enriched pathways associated with skeletal Class III malocclusion. CONCLUSIONS: The human investigations yielded some contentious conclusions. We conducted a genome-wide association study (GWAS), an epigenetics-wide association study (EWAS), RNA-seq analysis, integrating GWAS and expression quantitative trait loci (eQTL), micro- and small-RNA, and long non-coding RNA analysis in tissues connected to skeletal Class III malocclusion phenotype in tissues connected with the skeletal phenotype. Finally, we invite regional, national, and international orthodontists and surgeons to join this effort by contributing human samples with skeletal Class III malocclusion following the accepted Helsinki ethical protocol to challenge these phenomena jointly.
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Objective. To evaluate if nutritional status is associated with caries and gingivitis in Brazilian schoolchildren. Material and methods. Children of both genders, age ranging from 8 to 11 years old, were included in this study. Caries was diagnosed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingivitis was diagnosed using the Community Periodontal Index. The nutritional status of each child was defined by BMI Z-score calculation. Data on oral health behavior and dietary habit were collected through parent's questionnaires. Parametric analyzes were performed to compare the groups. The established alpha was 5%. Results. The sample consisted of 353 schoolchildren: 16 underweight children, 247 eutrophic children, 64 overweight children, and 26 were obese children. Overweight, Obese and Overweight + Obese children presented less cavitated caries lesion than Eutrophic children (P < .05). Gingivitis was not associated with nutritional status (P > .05). Conclusion. Caries was associated with overweight and obesity in Brazilian schoolchildren.
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BACKGROUND: To evaluate whether the long-term use of complete dentures (CD) into promotes significant changes in the oral health-related quality of life (OHRQoL) in edentulous patients. METHODS: A systematic review and meta-analysis was conducted. A broad search in Pubmed, Web of Science, Scopus, Cochrane Library, Grey Literature, clinical trials registers and manual search was done. The eligibility criteria were based on population, intervention, comparisons and outcome: (P) edentulous patients, (I) CDs rehabilitation, (C) OHRQoL after CD, (O) change in scores of OHRQoL. Two independent reviewers applied the eligibility criteria, collected qualitative data, performed methodological quality and evaluated the certainty of the evidence (grading of recommendations assessment, development and evaluation). The meta-analysis was analyzed in RevMan 5.4 with 95% confidence intervals (CIs) and P < 0.05. RESULTS: A total of 2452 records were identified. Twenty-four articles were included in qualitative synthesis. Nineteen studies were qualified as good, 3 as fair and 2 as poor quality. Twelve studies were included in quantitative analysis (meta-analysis). The use of CD did not improved OHRQoL in a period of 3 months through the assessment of the Geriatric Oral Health Assessment Index (GOHAI) instrument (P = 0.55; CI; 6.86 [-15.60, 29.31]), and Oral Health Impact Profile-14 (OHIP-14) (P = 0.05; CI; -14.91 [-29.87, 0.04]), with very low certainty of evidence. In a long term, 6 months, GOHAI instrument (P < 0.00001; CI; 16.22 [10.70, 21.74]), OHIP 20 (P = 0.02; CI; -11.09 [-20.54, -1.64]) and OHIP-EDENT (P = 0.0004; CI; -8.59 [-13.32, -3.86]) showed improvement on OHRQoL, with very low and low evidence of certainty, respectively. CONCLUSION: CD has the strong potential to contribute to oral health-related quality of life in long-term.