Genetic mapping of high caries experience on human chromosome 13

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. © 2013 Küchler et al.; licensee BioMed Central Ltd

Psychological impact of visible differences in patients with congenital craniofacial anomalies

© 2015, Singh and Moss; licensee Springer. Background: Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. Methods: The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. Results: There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p < 0.001) and DAS59 scores (mean score for patients 159.16 ± 31.54 while for controls 77.64 ± 6.57, p < 0.001), indicating that patients experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. Conclusions: There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

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. © 2014 Weber et al.; licensee BioMed Central Ltd

Measurement of Distance Between the Mental Foramina using ConeBeam Computed Tomography: A Pilot Study with a Possible Method for Planning Mandibular Implants

Objective: To identify the average number of dental implants that can be placed in the lower anterior region to support a fixed mandibular prosthesis based on the distance between the mental foramina, using a cone beam computed tomography (CBCT) scan through a new method of measurement. Material and Methods: Eighty-two CT scans from a total sample of 1,465 exams were selected. The method to measure the space between the foramina was developed using the BlueSky Plan3 software in Dicom format and the axial reconstruction views were chosen for measurements. Descriptive analysis of data was conducted categorical variables were compared using the χ2 test (p <0.05).  Results: The mean age of individuals who underwent the scans was 63.51 ± 9.49 years old with a minimum and maximum age of 40 and 86 years old, respectively. The mean linear measurement between the foramina was 40.52 ± 3.92mm. In males the mean distance was 41.93 ± 3.98 mm, and for females it was 39.99 ± 3.80mm, with a significant difference between the means (p = 0.043). There was no positive association between the presence of the anterior loop and gender (p = 0.719). The results showed that the vast majority of subjects (n = 80) could be rehabilitated using a protocol with 4 implants of 3.3mm diameters. Conclusion: Seventy-seven patients would be able to receive protocols of 4 implants with diameters of 3.75 or 4.0mm, and only 4 subjects would be able to be rehabilitated with 6 implants with diameters of 3.75 mm according to the protocol originally described by Brånemark

Prevalence of dental anomalies in nonsyndromic individuals with cleft lip and palate: A systematic review and meta-analysis

Objective: To assess whether individuals born with nonsyndromic oral clefts display a higher frequency of dental anomalies. Design: A search of MEDLINE, BIREME, OVID ALL EMB Reviews, and The Cochrane Library was conducted. The methodologic quality of the papers selected was assessed and scored. Papers reporting observational controlled studies of nonsyndromic forms of oral cleft matched for dental anomalies in primary and/or permanent teeth were included without language restrictions. Eligible studies were scored as "A" - low risk of bias, "B" - moderate risk of bias, or "C" - high risk of bias and poor quality. Fixed and random effects models were used to aggregate individual odds ratios (OR) and to derive pooled estimates and 95% confidence intervals. Results: Six studies fulfilled our selection criteria and were included in the meta-analysis. Three distinct subgroup analyses were carried out in terms of dental anomalies. In the tooth agenesis meta-analysis, a random effects model was used because of heterogeneity and showed a significant association between tooth agenesis and oral clefts (OR = 12.31; 95% confidence interval [CI] = 3.75 to 40.36). In the remaining analyses, the fixed effects model revealed a positive association between supernumerary (OR = 4.99; 95% CI, 2.58 to 9.64) and crown morphologic abnormalities (OR = 5.69; 95% CI, 3.96 to 8.19) with oral clefts. Most included studies were of low to moderate quality. Conclusion: Although general limitations in study design were observed, the evidence suggests that a higher number of dental anomalies in the permanent dentition are noted in individuals born with oral clefts

Caries experience in individuals with cleft lip and palate

Purpose: The purpose of this study was to assess if children with clefts have an increased caries experience. Methods: Caries data was collected via clinical examination of 115 4- to 21-year-olds with clefts and 230 controls. Cleft type was confirmed through their medical records and fluoride exposure history; oral hygiene habits and dietary history were obtained though a questionnaire. Results: The adherence to the preventive oral health habits (toothbrushing, use of fluoride, and dietary factors) were not different among groups excluding the use of dental floss. The mean DMFT was 1.20 (±1.8 SD) for the cleft group and 0.90 (±1.8) for the control group. There was no significant difference in the DMFT scores between children with clefts and the control group (P=.16). The mean dmft was 1.68 (±2.1) for the cleft group and 2.61 (±2.9) for the control group. The prevalence of dental caries in primary teeth was significantly lower in the cleft-affected children vs the control group (P=.02).The percentage of caries-free individuals was similar in cleft and control groups (P=.90), and was also similar in different cleft types (P=.67). Conclusion: Caries experience in children born with clefts is not higher in comparison to control children

Mesio-distal and buccal-lingual tooth dimensions are part of the cleft spectrum: A pilot for future genetic studies

Objective: Considering that oral clefts and tooth dimensions may be part of the same phenotypic spectrum, the aim of this study was to investigate tooth dimensions in permanent dentition and dental malformations, including tooth size discrepancies, of subjects born with clefts compared with individuals without clefts. Design: Cross-sectional study. Participants: The cleft group was composed of 66 subjects, and the noncleft group consisted of 66 healthy unrelated subjects. Main Outcome Measures: The mesio-distal and buccal-lingual crown diameter of fully erupted permanent teeth outside the cleft area was measured using a digital caliber. Clinical records and radiographs were used to evaluate the type of clefts and dental anomalies. Results: The lower second premolar was significantly reduced in the CLP and CP groups. The upper lateral incisor was found to be significantly smaller in the CP group, only for mesio-distal dimensions (P<.05). Dental agenesis was found in eight (12%) cleft subjects and supernumerary teeth in two (3%). Conclusions: Subjects born with oral clefts presented size reduction in specific dental groups. © Copyright 2013 American Cleft Palate-Craniofacial Association