RESUMEN

This study evaluated the association between single-nucleotide polymorphisms (SNPs) in vitamin-D-related genes and the amount of external apical root resorption linked to orthodontic treatment. One hundred and forty-three individuals were assessed. The amount of external apical root resorption of upper central incisors (EARRinc ) and lower first molars (EARRmol ) were evaluated in radiographs. Seven SNPs were genotyped across four genes including the vitamin D receptor [VDR], group-specific component [GC], cytochrome P450 family 27 subfamily B member 1 [CYP27B1], and cytochrome P450 family 24 subfamily A member 1 [CYP24A1]. Linear regressions were implemented to determine allele-effects on external apical root resorption. Individuals carrying the AA genotype in VDR rs2228570 had a 21% higher EARRmol than those having AG and GG genotypes (95% CI: 1.03,1.40). EARRmol in heterozygous rs2228570, was 12% lower than for homozygotes (95%CI: 0.78,0.99). Participants with the CCG haplotype (rs1544410-rs7975232-rs731236) in VDR had an EARRmol 16% lower than those who did not carry this haplotype. Regarding CYP27B1 rs4646536, EARRinc in participants who had at least one G allele was 42% lower than for homozygotes AA (95%CI: 0.37,0.93). Although these results did not remain significant after multiple testing adjustment, potential associations may still be suggested. Further replication studies are needed to confirm or refute these findings.

Asunto(s)

Resorción Radicular , Vitamina D , Humanos , 25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética , Resorción Radicular/diagnóstico por imagen , Resorción Radicular/genética , Receptores de Calcitriol/genética , Genotipo , Vitaminas , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Estudios de Casos y Controles

RESUMEN

INTRODUCTION: Developmental Defects of Enamel (DDEs) comprise qualitative and/or quantitative changes to the enamel during amelogenesis. The aetiology of DDE remains inconclusive. AIM: To determine the association of pre, peri, and postnatal factors with the presence of DDE. DESIGN: Cross-sectional study with 353 children (8 to 11 years-old) in a Brazilian town. METHODS: One calibrated dentist assessed DDE using the Developmental Defects of Enamel Index and a questionnaire collected medical and sociodemographic data. MAIN OUTCOMES: Children with at least one type of DDE were categorized into the DDE group. Subtypes of DDE were also recorded. RESULTS: 63.1% of children had at least one type of DDE. Diffuse opacity was present in 36.7%, demarcated opacity in 14.8%, and hypoplasia in 5.83% of the children. In multivariate analysis, demarcated opacities and hypoplasia were associated with birth weight ⟨ 2500g (OR = 4.82; 95% CI 1.23-1.95). CONCLUSION: Low birth weight predicted DDE.

Asunto(s)

Hipoplasia del Esmalte Dental , Brasil/epidemiología , Niño , Estudios Transversales , Esmalte Dental , Hipoplasia del Esmalte Dental/epidemiología , Humanos , Prevalencia , Factores de Riesgo

RESUMEN

AIM: To evaluate the association between the promoter region of defensin beta 1 (DEFB1) genetic polymorphisms and persistent apical periodontitis (PAP) in Brazilian patients. METHODOLOGY: Seventy-three patients with post-treatment PAP (PAP group) and 89 patients with root filled teeth with healed and healthy periradicular tissues (healed group) were included (all teeth had apical periodontitis lesions at the beginning of the treatment). Patients who had undergone at least 1 year of follow-up after root canal treatment were recalled, and their genomic DNA was extracted from saliva. Two single nucleotide polymorphisms (SNPs) in DEFB1 at the g. -52G>A (rs1799946) and g. -20G>A (rs11362) positions were analysed using real-time polymerase chain reaction. The chi-squared test was performed, and the odds ratios were calculated using Epi Info 3.5.2. Logistic regression analysis in the codominant model, using the time of follow-up as a variable, was used to evaluate the SNP-SNP interaction. All tests were performed with an established alpha of 0.05 (P = 0.05). RESULTS: For the rs11362 polymorphism in the codominant and recessive models, patients who carried two copies of the T allele had a significantly lower risk of developing PAP (P = 0.040 and P = 0.031, respectively). For the rs1799946 polymorphism in DEFB1 in the codominant and recessive models, carrying one copy of the T allele significantly increased the risk of developing PAP (P = 0.007 and P = 0.031, respectively). In the logistic regression, both polymorphisms were associated with PAP as well as the SNP-SNP interaction (P < 0.0001). CONCLUSIONS: Polymorphisms in DEFB1 genes were associated with the development of post-treatment persistent apical periodontitis.

Asunto(s)

Periodontitis Periapical , beta-Defensinas , Brasil , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Periodontitis Periapical/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas/genética , beta-Defensinas/genética

RESUMEN

The aim of the study was to evaluate the association between genetic polymorphisms in human epidermal growth factor (EGF) (rs4444903) and transforming growth factor ß1 - (TGF-ß1) (rs1800470) with facial measurements in patients with dentofacial deformities. A total of 144 adult patients with dentofacial deformities were included. Facial linear and angular measurements were traced in lateral cephalometric radiographs used Dolphin 2D software. Cells from oral mucosa were collected for DNA to be extracted. The polymorphisms were genotyped using real-time polymerase chain reaction (PCR). Probabilites of less than 0.05 were accepted as significant. The rs4444903 heterozygous patients had a decrease in the mandibular length (p=0.043) and the length of the mandibular base (p=0.008), and homozygous A patients also had a reduction in the length of the mandibular base (p=0.013) compared with homozygous G patients. Patients AG had an increase in measurement of the anterior facial height (p=0.032) and in ANS-Me distance (p=0.022) when compared with homozygous A. To the rs1800470, heterozygous patients had an increase in the length of the mandibular base (p=0.043) when compared with homozygous A. Heterozygous AG patients had an increase in angular measurements in TGF-ß1 polymorphism for the upper gonial angle, when compared with the homozygous AA (p=0.032). Genetic polymorphisms in EGF and TGF-ß1 are associated with facial measurements in a Brazilian population of patients with dentofacial deformities.

Asunto(s)

Factor de Crecimiento Epidérmico/genética , Cara , Predisposición Genética a la Enfermedad , Factor de Crecimiento Transformador beta1/genética , Adulto , Brasil , Cara/anatomía & histología , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Factor de Crecimiento Transformador beta

RESUMEN

OBJECTIVE: The aim of this study was to assess the quality of life (QoL) of children previously treated for cleft lip and/or palate (CL/P) and compare with non-cleft children. METHOD: A case-control study with 70 children between 5 and 12 years old was carried out. The case group consisted of 35 individuals previously treated for non-syndromic CL/P and presently receiving assessment at a rehabilitation hospital in Brazil. The children had received primary surgical treatment for CL/P reconstruction during early childhood. The control group consisted of 35 healthy children selected to ensure close similarity to the cleft group in age, gender and socioeconomic status. QoL was measured using the AUQEI questionnaire. RESULTS: Cleft lip and palate had no significant influence on the QoL in children (p = 0.44). A higher percentage of the cleft lip and palate group of children reported a lower QoL than the cleft lip or cleft palate groups. Gender had no significant difference on the quality of life in CL/P children (p = 0.2) and in control group (p = 1.0). CONCLUSION: The QoL in children with CL/P was found to be similar to the non-cleft group. Our results confirm that clefts repaired during earlier childhood associated with a health care program, including psychological support, is beneficial for CL/P children.

Asunto(s)

Labio Leporino/psicología , Fisura del Paladar/psicología , Calidad de Vida , Brasil , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino , Encuestas y Cuestionarios

RESUMEN

It has been proposed that tooth agenesis and cancer development share common molecular pathways. We performed a cross-sectional study to investigate the epidemiological and molecular association between tooth agenesis and self-reported family history of cancer. Eighty-two individuals with tooth agenesis and 328 individuals with no birth defect were recruited from the same institution. Tooth agenesis was assessed in permanent teeth and was defined based on the age of the participants and when initial tooth formation should be radiographically visible. We also investigated the role of genes involved in dental development that have been implicated in tumorigenesis, and 14 markers in AXIN2, FGF3, FGF10, and FGFR2 were genotyped. Individuals with tooth agenesis had an increased risk of having a family history of cancer (p = 0.00006; OR = 2.7; 95% C.I., 1.6-4.4). There were associations between AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic allele of FGFR2 (rs1219648) presented higher risk for having premolar agenesis (p = 0.02; OR = 1.8; 95% C.I., 1.1-3.0)]. In conclusion, tooth agenesis was associated with positive self-reported family history of cancer and with variants in AXIN2, FGF3, FGF10, and FGFR2. Prospective studies are needed to confirm if tooth agenesis can be used as a risk marker for cancer.

Asunto(s)

Anodoncia/genética , Neoplasias/genética , Alelos , Anodoncia/epidemiología , Proteína Axina/genética , Diente Premolar/anomalías , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Estudios de Casos y Controles , Estudios Transversales , Estudios Epidemiológicos , Femenino , Factor 10 de Crecimiento de Fibroblastos/genética , Factor 3 de Crecimiento de Fibroblastos/genética , Variación Genética/genética , Genotipo , Humanos , Incisivo/anomalías , Masculino , Epidemiología Molecular , Neoplasias/epidemiología , Odontogénesis/genética , Polimorfismo Genético/genética , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/genética , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Factores de Riesgo , Autoinforme

RESUMEN

Recent evidence suggests that genetic studies may contribute to a better understanding of individual susceptibility to caries. Matrix metalloproteinases (MMPs) and their tissue inhibitors have been suggested to be involved in the caries process. The purpose of this study was to determine if polymorphisms in MMP2 (rs243865), MMP9 (rs17576), MMP13 (rs2252070), and TIMP2 (rs7501477) were associated with caries. Eligible unrelated children and adolescents were evaluated using a cross-sectional design. Data on oral health habits was obtained through a questionnaire and caries data was collected by clinical examination. Genotyping of the selected polymorphisms was carried out by real-time PCR. Allele and genotype frequencies were compared between individuals with and without caries experience. Of 505 subjects, 212 were caries-free and most subjects (61.2%) had mixed dentition. Allele frequency of MMP2, MMP13 and TIMP2 was different between caries-affected and caries-free individuals, with significant association for MMP13 (p = 0.004). Mutant allele carriers for MMP13 demonstrated a significantly decreased risk for caries (OR = 0.538, 95% CI 0.313-0.926); this result remained significant after adjustment for candidate genes, type of dentition and dietary factors. Allelic and genotype frequencies of the polymorphism in MMP9 were similar in caries-affected and caries-free individuals. Genetic variations in MMP13 may contribute to individual differences in caries susceptibility. Our findings reinforce that susceptibility to caries results from gene-environment interactions.

Asunto(s)

Susceptibilidad a Caries Dentarias/genética , Caries Dental/genética , Metaloproteinasa 13 de la Matriz/genética , Polimorfismo Genético/genética , Adenina , Adolescente , Alelos , Niño , Preescolar , Estudios de Cohortes , Estudios Transversales , Índice CPO , Dentición Mixta , Sacarosa en la Dieta/administración & dosificación , Femenino , Frecuencia de los Genes/genética , Interacción Gen-Ambiente , Genotipo , Guanina , Humanos , Masculino , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/genética , Mutación/genética , Polimorfismo de Nucleótido Simple/genética , Inhibidores de Proteasas , Inhibidor Tisular de Metaloproteinasa-2/genética , Adulto Joven