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Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and/or genetic factors that interfere with tooth formation, emphasizing the importance of investigating enamel hypoplasia on an epidemiological and genetic level. A genome-wide association of enamel hypoplasia was performed in multiple cohorts, overall comprising 7,159 individuals ranging in age from 7-82 years. Mixed-models were used to test for genetic association while simultaneously accounting for relatedness and genetic population structure. Meta-analysis was then performed. More than 5 million single-nucleotide polymorphisms were tested in individual cohorts. Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (P < 5ï´10-8), and many suggestive association signals (5ï´10-8 < P < 5ï´10-6) near genes with plausible roles in tooth/enamel development. The strongest association signal (P = 1.57ï´10-9) was observed near BMP2K in one of the individual cohorts. Additional suggestive signals were observed near genes with plausible roles in tooth development in the meta-analysis, such as SLC4A4 which can influence enamel hypoplasia. Additional human genetic studies are needed to replicate these results and functional studies in model systems are needed to validate our findings.
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BACKGROUND: Dental caries is one of the most common chronic diseases and is influenced by a complex interplay of genetic and environmental factors. Most previous genetic studies of caries have focused on identifying genes that contribute to dental caries in specific ethnic groups, usually of European descent. METHODS: The aim of this study is to conduct a genome-wide association study (GWAS) to identify associations affecting susceptibility to caries in a large multiethnic population from Argentina, the Philippines, Guatemala, Hungary, and the USA, originally recruited for studies of orofacial clefts (POFC, N = 3686). Ages of the participants ranged from 2 to 12 years for analysis of the primary dentition, and 18-60 years for analysis of the permanent dentition. For each participant, dental caries was assessed by counts of decayed and filled teeth (dft/DFT) and genetic variants (single nucleotide polymorphisms, SNPs) were genotyped or imputed across the entire genome. Caries was analyzed separately for the primary and permanent dentitions, with age, gender, and presence/absence of any type of OFC treated as covariates. Efficient Mixed-Model Association eXpedited (EMMAX) was used to test genetic association, while simultaneously accounting for relatedness and stratification. RESULTS: We identified several suggestive loci (5 × 10-8 < P < 5 × 10-6) within or near genes with plausible biological roles for dental caries, including a cluster of taste receptor genes (TAS2R38, TAS2R3, TAS2R4, TASR25) on chromosome 7 for the permanent dentition analysis, and DLX3 and DLX4 on chromosome 17 for the primary dentition analysis. Genome-wide significant results were seen with SNPs in the primary dentition only; however, none of the identified genes near these variants have known roles in cariogenesis. CONCLUSION: The results of this study warrant further investigation and may lead to a better understanding of cariogenesis in diverse populations, and help to improve dental caries prediction, prevention, and/or treatment in future.
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Labio Leporino , Fisura del Paladar , Caries Dental , Adolescente , Adulto , Niño , Preescolar , Índice CPO , Caries Dental/epidemiología , Caries Dental/genética , Femenino , Estudio de Asociación del Genoma Completo , Proteínas de Homeodominio , Humanos , Masculino , Persona de Mediana Edad , Filipinas , Factores de Transcripción , Adulto JovenRESUMEN
AIM: The aim of the present study was to evaluate the effect of antimicrobial photodynamic therapy (aPDT) as an adjunctive treatment to topical antiviral therapy for the treatment of children having herpetic gingivostomatitis. MATERIALS AND METHODS: 45 individuals (age group 12-18 years) with herpetic gingivostomatitis (HG) were divided into three groups on the basis of provision of treatment. (a) Group A: topical anti-viral therapy (TAT) (n = 14, mean age = 17.0 years) (b) Group B: antimicrobial photodynamic therapy (aPDT) (n = 15, mean age =17.7 years) and (c) Group C: topical anti-viral therapy + adjunctive aPDT (n = 16, mean age = 18.0 years) respectively. Pain scores [visual analogue scale (VAS) and McGill Pain Questionnaire (MPQ)] were assessed and HSV-1 was quantified. ENZYME LINKED IMMUNOSORBENT ASSAY (ELISA) was used to compute the pro-inflammatory cytokine including interleukin 6 (IL-6) and tumor necrosis factor-alpha (TNF-α). The analysis of the mean values and inter group comparisons were evaluated with the Mann-Whitney test. The Friedman test was used to establish the comparison of the changes observed in HSV quantification, pain scores, and pro-inflammatory cytokines. ANOVA tests were employed for the quantification of differences observed at follow-ups. The assessments for the clinical trial were done at baseline, immediate after post-op, two, and four weeks, and three and six months respectively. RESULTS: According to the analysis of the data obtained after the clinical assessment, the three groups reported a decrease in the pain scores, HSV-1 quantification and levels of the pro-inflammatory cytokines. However, Group C (TAT + aPDT) reported improvement in the observed parameters which was statistically significant in comparison to Group A (TAT) and Group B (aPDT) respectively. CONCLUSION: Antimicrobial photodynamic therapy (aPDT) in conjunction with topical antiviral therapy (TAT) helped in reducing the pain scores and pro-inflammatory cytokine levels in herpetic gingivostomatitis among children.
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Antiinfecciosos , Fotoquimioterapia , Estomatitis Herpética , Adolescente , Antibacterianos/uso terapéutico , Antiinfecciosos/uso terapéutico , Antivirales/uso terapéutico , Niño , Citocinas , Humanos , Dolor/tratamiento farmacológico , Fotoquimioterapia/métodos , Estomatitis Herpética/tratamiento farmacológicoRESUMEN
BACKGROUND: Autofluorescence (AF) spectroscopy is a potent yet non-invasive technique with diagnostic and therapeutic applications. It identifies and characterizes changes occurring in the human body based on the changes in the fluorescence signatures. AIM: The primary purpose of this systematic review is to address the question "Is it feasible to detect dental plaque using light-induced auto-fluorescence in adult patients with invisible grade 1 plaque?" MATERIALS AND METHODS: The literature search was conducted independently MEDLINE, Embase, Cochrane Library, Web of Science, Google Scholar, and Scopus databases for relevant studies from January 2000 and June 2021, using the following terms in various combinations: detection, dental biofilm, plaque, light, auto-fluorescence, caries, gingivitis, sensitivity and specificity. Studies describing various fluorescence techniques for the detection of plaque, including sensitivity and specificity, were included. RESULTS: The majority of the studies indicated that AF spectroscopy allows fluorescence-based detection of various diseases, including early-stage dental plaque. While results of conventional plaque detection techniques are inconsistent, the data from the AF technique is reliable and reproducible, which can be used for patient documentation. However, a wide range of non-uniformity existed in these studies. AF spectroscopy, as a non-invasive technique, represents a viable and patient-friendly clinical tool for the early detection of dental biofilm plaque, and its meticulous removal has been directly responsible for the prevention of this disease. CONCLUSION: Despite the heterogeneity and limitations of studies included in this review, the future for light-induced autofluorescence spectroscopy technologies in diagnostic dentistry certainly presents an accurate and potentially applicable option.
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Placa Dental , Gingivitis , Fotoquimioterapia , Adulto , Biopelículas , Gingivitis/prevención & control , Humanos , Higiene Bucal , Fotoquimioterapia/métodosRESUMEN
Although genetics affects early childhood caries (ECC) risk, few studies have focused on finding its specific genetic determinants. Here, we performed genome-wide association studies (GWAS) in five cohorts of children (aged up to 5 years, total N = 2974, cohorts: Center for Oral Health Research in Appalachia cohorts one and two [COHRA1, COHRA2], Iowa Fluoride Study, Iowa Head Start, Avon Longitudinal Study of Parents and Children [ALSPAC]) aiming to identify genes with potential roles in ECC biology. We meta-analyzed the GWASs testing ~3.9 million genetic variants and found suggestive evidence for association at genetic regions previously associated with caries in primary and permanent dentition, including the ß-defensin anti-microbial proteins. We then integrated the meta-analysis results with gene expression data in a transcriptome-wide association study (TWAS). This approach identified four genes whose genetically predicted expression was associated with ECC (p-values < 3.09 × 10−6; CDH17, TAS2R43, SMIM10L1, TAS2R14). Some of the strongest associations were with genes encoding members of the bitter taste receptor family (TAS2R); other members of this family have previously been associated with caries. Of note, we identified the receptor encoded by TAS2R14, which stimulates innate immunity and anti-microbial defense in response to molecules released by the cariogenic bacteria, Streptococcus mutans and Staphylococcus aureus. These findings provide insight into ECC genetic architecture, underscore the importance of host-microbial interaction in caries risk, and identify novel risk genes.
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Estudio de Asociación del Genoma Completo , Gusto , Niño , Humanos , Preescolar , Anciano , Estudios Longitudinales , Susceptibilidad a Caries Dentarias , Transcriptoma , Streptococcus mutans/genéticaRESUMEN
Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase the risk of developing dental caries. Based on previous studies, certain dental anomalies tend to co-occur in patients, suggesting that these traits may share common genetic and etiological components. The main goal of this study was to implement a multivariate genome-wide association study approach to identify genetic variants shared between correlated structural dental anomalies and dental caries. Our cohort (N = 3,579) was derived from the Pittsburgh Orofacial Clefts Study, where multiple dental traits were assessed in both the unaffected relatives of orofacial cleft (OFC) cases (n = 2,187) and unaffected controls (n = 1,392). We identified four multivariate patterns of correlated traits in this data: tooth agenesis, impaction, and rotation (AIR); enamel hypoplasia, displacement, and rotation (HDR); displacement, rotation, and mamelon (DRM); and dental caries, tooth agenesis and enamel hypoplasia (CAH). We analyzed each of these four models using genome-wide multivariate tests of association. No genome-wide statistically significant results were found, but we identified multiple suggestive association signals (P < 10-5) near genes with known biological roles during tooth development, including ADAMTS9 and PRICKLE2 associated with AIR; GLIS3, WDR72, and ROR2 associated with HDR and DRM; ROBO2 associated with DRM; BMP7 associated with HDR; and ROBO1, SMAD2, and MSX2 associated with CAH. This is the first study to investigate genetic associations for multivariate patterns of correlated dental anomalies and dental caries. Further studies are needed to replicate these results in independent cohorts.