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1.
Caries Res ; 2024 May 14.
Article in English | MEDLINE | ID: mdl-38744254

ABSTRACT

INTRODUCTION: Erosive tooth wear (ETW) is a multifactorial condition of increasing prevalence in the younger population. This study aimed to explore the association between different ETW phenotypes with MMP2 and COMT single-nucleotide variants, and selected environmental factors. METHODS: Saliva samples, erosive wear and dental caries experience data, and dietary/behavioral information from 16-18-year-old patients (n= 747) were used. Genotypes were obtained and phenotypes were further analyzed considering diet and behavioral data, using logistic regression as implemented in PLINK, with an alpha of 0.05. RESULTS: When comparing individuals' ETW-free with those with mild ETW, an association was found with COMT rs6269 (p = 0.02). The comparison between ETW-free individuals with individuals with severe ETW also showed an association with COMT rs6269 under the recessive model (p = 0.03). Logistic regression showed that in the presence of less common alleles of MMP2 rs9923304 and COMT rs6269, ETW were more likely to occur when individuals drank wine. The GG genotype of COMT rs6269 was associated with the presence of lower (p = 0.02) and higher (p = 0.02) caries experience when individuals with ETW only in enamel were compared with individuals with ETW involving dentin. CONCLUSION: The results support a role of genes in ETW, with wine consumption being identified as a significant modulator, suggesting that gene-environment interactions may contribute to the development of erosive tooth wear.

2.
Int J Paediatr Dent ; 34(3): 211-218, 2024 May.
Article in English | MEDLINE | ID: mdl-37337785

ABSTRACT

BACKGROUND: Molar hypomineralization (MH) is defined as a multifactorial condition, and thus, its presence may be defined by interactions between environmental and genetic factors. AIM: To evaluate the association between MH, genes involved in enamel development, and the use of medication during pregnancy in early childhood. DESIGN: One hundred and eighteen children, 54 with and 64 without MH, were studied. The data collected included demographics, socioeconomic data, and the medical history of mothers and children. Genomic DNA was collected from saliva. Genetic polymorphisms in ameloblastin (AMBN; rs4694075), enamelin (ENAM; rs3796704, rs7664896), and kallikrein (KLK4; rs2235091) were evaluated. These genes were analyzed by real-time polymerase chain reaction using TaqMan chemistry. The software PLINK was used to compare allele and genotype distributions of the groups and to assess the interaction between environmental variables and genotypes (p < .05). RESULTS: The variant allele KLK4 rs2235091 was associated with MH in some children (odds ratio [OR]: 3.75; 95% confidence interval [CI] = 1.65-7.81; p = .001). Taking medications in the first 4 years of life was also associated with MH (OR: 2.94; 95% CI = 1.02-6.04; p = .041) and specifically in association with polymorphisms in ENAM, AMBN, and KLK4 (p < .05). The use of medications during pregnancy was not associated with MH (OR: 1.37; 95% CI = 0.593-3.18; p = .458). CONCLUSION: The results of this study suggest that taking medication in the postnatal period appears to contribute to the etiology of MH in some evaluated children. There may be a possible genetic influence of polymorphisms in the KLK4 gene with this condition.


Subject(s)
Molar Hypomineralization , Child , Female , Humans , Child, Preschool , Amelogenesis/genetics , Genotype , Polymorphism, Genetic/genetics , Dental Enamel
3.
Oral Dis ; 2023 Oct 19.
Article in English | MEDLINE | ID: mdl-37856649

ABSTRACT

OBJECTIVE: To investigate whether genes in the Wnt pathway, which have been previously associated with both oral clefts and oral squamous cell carcinoma, are also associated with oral potentially malignant disorders (leukoplakia, erythroplakia and lichen planus). MATERIALS AND METHODS: Case-control study: Dataset consisted of clinical information linked to DNA samples from affected subjects diagnosed with oral potential malignant disorders and oral cancer and their matched controls. Individual samples, clinical history, and potential risk factors were obtained through the Dental Registry and DNA Repository project of the School of Dental Medicine, University of Pittsburgh. The rs1533767 (WNT11), rs9879992 (GSK3B), and rs3923087 (AXIN2) were tested. After genomic DNA had been extracted, genotyping was performed blindly to clinical diagnosis status. Representation of genotypes and alleles in affected subjects in comparison to the unaffected individuals was determined using PLINK. Additional analysis was performed to investigate associations between environmental (socioeconomic/lifestyle) risk factors and the oral pathologies studied using STATA. RESULTS: Two of the SNPs tested (rs9879992 in GSK3B and rs3923087 in AXIN2) were statistically, significantly associated with the pathologies studied (p = 0.039 and 0.038, respectively). CONCLUSION: Single-nucleotide polymorphisms in genes in the Wnt pathway were associated with oral potentially malignant disorders.

4.
Orthod Craniofac Res ; 2023 Aug 29.
Article in English | MEDLINE | ID: mdl-37643023

ABSTRACT

OBJECTIVE: This study aimed to investigate the frequency of molar-incisor hypomineralization (MIH) in individuals born with cleft lip and or cleft palate. SETTINGS AND SAMPLE: Three hundred eighty-six individuals born with cleft lip and/or palate before orthodontic treatment. METHODS: All the individuals were submitted to a clinical examination and intraoral standardized photos. The registration of MIH was taken by two orthodontists and analysed in association with the cleft type and laterality. The Kruskal-Wallis test and the regression test were used to compare the frequency of molars and incisors affected according to cleft type and laterality, sex and age. RESULTS: We found a frequency of 67.87% of MIH in the studied sample. The frequency varied from 25% (in individuals born with cleft palate) to 77% in individuals born with bilateral cleft lip and palate). The number of affected molars was statistically different depending on cleft type and laterality (P < .001- Kruskal-Wallis test). Differences were found between individuals born with unilateral cleft lip and palate and unilateral cleft lip and alveolus (P = .03), and with isolated cleft palate (P = .03), and between individuals born with bilateral cleft lip and palate and born with unilateral cleft lip and alveolus (P = .01), and cleft palate (P = .01). Sex (P = .21) and age (P = .36) had no influence on the frequency of MIH. A positive correlation was found between the number of molars affected and incisors affected (P < .001). CONCLUSION: Individuals born with cleft lip and palate have a higher frequency of MIH, and the complexity of cleft type was associated with the number of affected molars.

5.
Orthod Craniofac Res ; 26(3): 387-392, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36309845

ABSTRACT

OBJECTIVE: Individuals born with cleft lip and palate may face difficulties in speech function, nutrition, facial aesthetics, and long-term care. These difficulties may increase the risk of psychological and psychiatric diseases. This work aimed to test if the variant allele of COMT was carried more frequently among individuals that have psychological and psychiatric outcomes within a cohort of patients born with cleft lip and palate. METHOD: DNA extraction from saliva of two hundred and fifteen individuals born with cleft lip with and/or palate and genotyping was performed, and the frequency of COMT rs4818 alleles was determined. The domain 'Psychological Function' of Cleft-Q™ was used to generate scores for analysis. The scores were computed, and differences in genotype or allele frequencies between individuals with psychological function scores 60 or above and 59 or below were compared. The history of psychiatric illness (family history of psychiatric disease or self-reported psychiatric illness) was registered. RESULTS: Genotype and allele frequencies were compared between individuals with and without a family history of psychiatric illness. Individuals with lower Psychological Function (Cleft-Q™) scores were more likely to be GG (P = .04) or carriers of allele G (P < .001). The reported psychiatric illness and positive family history of psychiatric illness were compared to COMT rs4818 allele and genotype frequencies of individuals without these indicators, and individuals with psychiatric illness and positive family history of psychiatric illness were more likely to carry allele G (P = .03 and P = .008, respectively). CONCLUSION: The study confirms previously suggested role of COMT rs4818 in psychiatric and psychological outcomes in a distinct cohort of patients born with cleft lip and palate.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Lip/genetics , Cleft Lip/psychology , Cleft Palate/genetics , Cleft Palate/psychology , Alleles , Gene Frequency/genetics , Catechol O-Methyltransferase/genetics
6.
Cleft Palate Craniofac J ; : 10556656231204503, 2023 Sep 24.
Article in English | MEDLINE | ID: mdl-37743563

ABSTRACT

OBJETIVE: To analyze if differences in lifestyle and environment between coastal and inland areas are associated with differences in frequency of orofacial cleft types. DESIGN: Populational cross-sectional study. SETTING: All live borns with orofacial cleft registered at Brazilian Live Birth Information System between 1999 and 2020. PARTICIPANTS: 33,699 live borns with orofacial cleft. INTERVENTION: Data from borns with orofacial cleft were collected at Brazilian Live Birth Information System. MAIN OUTCOME MEASURE: Differences in frequencies between the cleft types and covariates were determined using chi-square. Bivariate analysis was done to obtain the prevalence ratio of types of clefts by geographic origin. Multiple logistic regression analysis was used to determine adjusted odds ratios, controlling for covariates, establishing a significance level of p value <0.05. RESULTS: The frequency of cleft types was statistically significant different according to geographic origin (inland x coast). For syndromic clefts, the prevalence ratio for cleft lip with/without palate was 3.6 times higher inland (p value = 0.000). Regarding non-syndromics, the prevalence ratio for cleft lip with/without palate was two times higher inland (p value = 0.000). Logistic regression suggested cleft lip with/without palate was 6.33 more likely to occur in inland regions (p value = 0.000). CONCLUSION: Geographic origin was associated with the type of cleft in Brazil, with a higher prevalence of cleft lip with/without palate in inland areas, compared to cleft palate, which was higher in the coast.

7.
Cleft Palate Craniofac J ; : 10556656231191346, 2023 Aug 06.
Article in English | MEDLINE | ID: mdl-37545187

ABSTRACT

OBJECTIVE: To describe the Cleft Recurrence Risk (Cleft RR) App, designed to be used on genetic counseling for cleft lip and/ or palate. DESIGN: A validation study, single cohort. SETTING: Tertiary care children's Hospital. PATIENTS, PARTICIPANTS: The manual obtained the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center. INTERVENTIONS: The application for genetic counseling for cleft lip and/ or palate is designed to calculate quickly the recurrence risk considering the ancestry, cleft type, sex, and family history and thus encourage the implementation of genetic counseling in cleft lip and palate centers around the world. MAIN OUTCOME MEASURE(S): The data were submitted to the Bland-Altman statistics. RESULTS: After defining parameters the application development follows the steps: development, prototyping, and documentation. The validation of the calculated data was performed by comparing the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center obtained by the manual method with the results obtained by the mobile app method; the data were submitted to the Bland-Altman statistics and a high concordance was found. CONCLUSIONS: The mobile app for use by healthcare professionals proved to be simple to use, easy to apply, and provided accurate results. Cleft Recurrence Risk is an application for smartphones developed for genetic counseling in cleft lip and palate, supplementary use by health professionals, and should not replace professional performance.

8.
Acta Odontol Scand ; 80(4): 273-280, 2022 May.
Article in English | MEDLINE | ID: mdl-34752723

ABSTRACT

OBJECTIVE: This randomized clinical study aimed to evaluate the success of hyaluronic acid (HA) as a pulpotomy medicament of human primary molars and to compare it with formocresol (FC) and ferric sulphate (FS) pulpotomy treatments up to 12 months. MATERIALS AND METHODS: The study was conducted with 130 primary molars of 44 children. The ethical approval and registration to clinical trials (No: NCT04115358) were completed. After the removal of all the coronal pulp tissue, a 0.5% HA gel, or a FC, or a 20% FS solution were applied randomly to the radicular pulp tissues of the primary molars. Then, the pulp chambers were filled with a zinc oxide eugenol cement and restored either with a composite filling material or with a stainless-steel crown. The treatment success rates of the 3 groups were followed and compared clinically and radiographically at 1st-, 3rd-, 6th- and 12th-months. RESULTS: Primary molars treated with FC, FS and HA dressings were clinically successful 77.5%, 86.8% and 87.5% respectively after 12th-month follow-up (p > .05). Radiographic successes of FC, FS and HA groups were lower than clinical successes (57.6%, 68.8%, 57.9% respectively at the 12th-month) but the difference between the groups was not statistically significant (p > .05). Equivalence analysis assuming not more than 10% difference between the materials suggested that HA was not inferior to FC or FS. CONCLUSIONS: Within the limitations of this study, our randomized clinical trial shows that HA is a promising pulpotomy medicament in primary molars. However, further studies are justified to further improve the HA material success.


Subject(s)
Hyaluronic Acid , Pulpotomy , Calcium Compounds/therapeutic use , Child , Drug Combinations , Follow-Up Studies , Humans , Molar/surgery , Oxides/therapeutic use , Silicates/therapeutic use , Tooth, Deciduous , Treatment Outcome
9.
BMC Musculoskelet Disord ; 22(1): 959, 2021 Nov 17.
Article in English | MEDLINE | ID: mdl-34789211

ABSTRACT

BACKGROUND: Temporomandibular disorders (TMD) are a group of painful and debilitating disorders, involving the masticatory muscles and/or the temporomandibular joint (TMJ). Chronic TMD pain can be associated with genetic changes in the key muscle development genes. OBJECTIVE: To evaluate the association between polymorphisms in the PAX7 (paired box 7) gene and masticatory myalgia in patients with temporomandibular disorders (TMD). MATERIALS AND METHODS: This is a case-control study. Patients with TMD were divided into two groups: (a) presence of muscular TMD (n = 122) and (b) absence of muscular TMD (n = 49). Genomic DNA was obtained from saliva samples from all participants to allow for genotyping single nucleotide polymorphisms in PAX7 (rs766325 and rs6659735). Over-representation of alleles was tested using chi-square or Fisher's exact tests. Values of p < 0.05 were considered to be statistically significant. RESULTS: Individuals without muscular TMD were less likely to have the PAX7 rs6659735 GG genotype (p = 0.03). No associations were found for PAX7 rs766325. CONCLUSIONS: Alterations in PAX7 may influence muscular pathophysiology and individuals with TMD and the rs6659735 homozygous genotype (GG) are seemingly associated with muscular involvement of the disorder. No associations were found in the region rs766325.


Subject(s)
Chronic Pain , Temporomandibular Joint Disorders , Case-Control Studies , Humans , Muscles , PAX7 Transcription Factor/genetics , Polymorphism, Single Nucleotide , Stem Cells , Temporomandibular Joint Disorders/diagnosis , Temporomandibular Joint Disorders/epidemiology , Temporomandibular Joint Disorders/genetics
10.
Clin Oral Investig ; 25(3): 1307-1318, 2021 Mar.
Article in English | MEDLINE | ID: mdl-32648061

ABSTRACT

OBJECTIVE: The present study aimed to evaluate if genetic variants in PAX9, MSX1, TGFα, FGF3, FGF10, FGF13, GLI2 and GLI3 are involved in TS of permanent teeth. MATERIALS AND METHODS: Pretreatment dental records from orthodontic patients were assessed prior to recruitment. Patients with tooth agenesis and congenital anomalies (including oral cleft) and/or syndromes were excluded. Dental casts were used to measure the maximum crown dimensions of all fully erupted permanent teeth except second and third molars in mesiodistal direction. Teeth with caries, occlusal wear, mesiodistal restorations, and obvious deformities were not evaluated. Genomic DNA samples were used for genotyping. The allelic discrimination of 13 genetic variants was performed. The associations between TS and genotype were analyzed by linear regression, adjusted by gender at a significance level of p ≤ 0.05. RESULTS: Genetic polymorphisms in the tooth agenesis-related genes studied here were associated with increased and decreased TS, in both maxilla and mandible (p < 0.05). CONCLUSION: This study reported associations of novel tooth agenesis-related gene variants with permanent tooth size variations. CLINICAL RELEVANCE: The presence of some genetic variants could allow the prediction of permanent tooth size.


Subject(s)
Anodontia , Tooth , Anodontia/genetics , Humans , Mandible , PAX9 Transcription Factor/genetics , Polymorphism, Genetic
11.
J Craniofac Surg ; 32(4): e358-e360, 2021 Jun 01.
Article in English | MEDLINE | ID: mdl-33027179

ABSTRACT

ABSTRACT: One of the biggest challenges in clinical genetics is establishing associations between specific germline mutations and the resulting spectrum of phenotypes. The careful characterization of clinical presentations continues to be a tool for establishing these genotype phenotype correlations. The authors intend, by presenting a case study, proposing that the concomitant occurrence of a combinations of mild structural anomalies in the same individual may be due to changes in genes that can be linked by related pathways. A new born with cleft lip and palate was referred at the Cleft Lip and Palate Center. The anamnese was performed and collected data of familiar history, parental consanguinity, and information about pregnancy period. The careful characterization of clinical presentations and the genetic pathways was studied. It is possible that there is no single mutation that can be clearly identified as the etiology of the combination of the defects displayed in the present case.


Subject(s)
Cleft Lip , Cleft Palate , Cleft Lip/genetics , Cleft Palate/genetics , Female , Genes, Modifier , Humans , Microfilming , Phenotype , Pregnancy
12.
Crit Rev Toxicol ; 50(4): 348-358, 2020 04.
Article in English | MEDLINE | ID: mdl-32343161

ABSTRACT

Urine has been a biological matrix of choice for drug screening, but recent advances in technology and the introduction of commercial oral fluid assays have effectively established oral fluid as a viable alternative matrix. This systematic review aimed to evaluate the sensitivity of oral fluid in detecting some illicit drugs compared to urine, and to compare the initial and final detection times of these drugs in both fluids. The electronic search in MEDLINE, Cochrane Library, Scopus, and Web of Science was carried out covering studies published from January 2003 and June 2019, in order to find all valid studies that detected drugs in oral fluid and urine in the same patient. Studies about illicit drugs, such as tetrahydrocannabinol, cocaine, amphetamines and illicit opioids, with fluids collection at the same day, controlled drug administration during the study, reported administration interval and time of collection were favored. Out of 2598 studies identified by electronic search, 7 studies were selected for qualitative analysis. Five were clinical trials and 2 were crossover trials. In total, 74 patients aged 20-52 years underwent a diagnostic examination (4 studies with tetrahydrocannabinol, 1 with methamphetamine, and 2 with cocaine) after drug administration. Illicit drug detection in oral fluid is similar to urine but oral fluid has a strong potential for the immediate detection of recent marijuana use compared to urine. In relation to cocaine and methamphetamine, the largest drugs detection window is obtained through urine analysis. Oral fluids cannot replace urine for most of the purposes of drug testing.


Subject(s)
Illicit Drugs/metabolism , Substance Abuse Detection/methods , Humans , Illicit Drugs/urine , Saliva/metabolism
13.
Caries Res ; 54(2): 165-175, 2020.
Article in English | MEDLINE | ID: mdl-32045909

ABSTRACT

Dental erosive wear is a multifactorial condition of high prevalence. Nowadays, there is an emphasis on discovering individual genetic predisposition for the development of this condition. Aquaporins (AQPs) are water channel proteins expressed in salivary glands, as well as during tooth development. They are involved in salivary secretion and composition and linked to physiological protection of the oral cavity. The aim of this study was to explore the relationship between different dental erosive wear phenotypes, AQP genes, and selected environmental factors. Data from 705 dental patients were used to investigate the association between dental erosive wear phenotypes and AQPs' single-nucleotide variants. Phenotypes were further analyzed considering diet and oral hygiene data, using logistic regression analysis, as implemented in PLINK, with the assumption that dental erosive wear is a complex gene-environment model. Associations were found between severe erosive tooth wear and rs2878771 (AQP2) for the genotypic (p = 0.02) and dominant (p = 0.03) models, and rs3736309 (AQP5) for the allelic model (p = 0.02). Logistic regression analyses, after implementing the Bonferroni correction, showed that several significant associations were present when covariates were included, suggesting that a strong environmental component is present. Our results show that dental erosive wear establishes under a gene-environmental complex model.


Subject(s)
Tooth Erosion , Tooth Wear , Aquaporin 2 , Humans , Oral Hygiene , Phenotype , Prevalence , Tooth Erosion/genetics
14.
Caries Res ; 54(1): 2-6, 2020.
Article in English | MEDLINE | ID: mdl-31610535

ABSTRACT

Our understanding of erosive tooth wear and its contributing factors has evolved considerably over the last decades. New terms have been continuously introduced, which frequently describe the same aspects of this condition, whereas other terms are being used inappropriately. This has led to unnecessary confusion and miscommunication between patients, professionals, and researchers. A group of 15 experts, selected by the European Organization for Caries Research (ORCA) and the Cariology Research Group of the International Association for Dental Research (IADR), participated in a 2-day workshop to define the most commonly used terms in erosive tooth wear. A modified Delphi method was utilized to reach consensus. At least 80% agreement was achieved for all terms discussed and their definitions related to clinical conditions and processes, basic concepts, diagnosis, risk, and prevention and management of erosive tooth wear. Use of the terms agreed on will provide a better understanding of erosive tooth wear and intends to enable improved communication on this topic.


Subject(s)
Dental Caries , Tooth Attrition , Tooth Wear , Consensus , Dental Caries/prevention & control , Humans , Tooth Erosion/prevention & control , Tooth Wear/prevention & control
15.
J Craniofac Surg ; 31(6): 1526-1528, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32209932

ABSTRACT

BACKGROUND: The oronasal fistula in cleft patients is one of the complications that can be found after primary surgeries due to a failure of healing of the surgical repair that causes the communication between the oral and nasal cavities. A number of procedures can be implemented to correct the fistula and it is not clear if a particular technique is the best to be recommended. OBJECTIVE: This study aims to systematically analyze the scientific evidence regarding the treatment of oronasal fistulas located in the lingual-alveolar and labial-alveolar regions in patients with cleft lip and palate who have undergone primary surgeries. MATERIAL AND METHODS: A bibliographic search of articles published until September 2018 without restricted year and language of publication, in PubMed (Medline), Scopus, Cochrane, Web of science, and BVS databases. The MeSHterms "Fistula," "Oral Fistula," and "Cleft Lip" were used, which were related to each other and with other keywords related to the subject of the review through the "OR" and "AND" operators. The quality of the publications was evaluated according to the guidelines of the Methodological Index for Nonrandomized Studies. RESULTS: After applying the eligibility criteria, a total of 18 articles were selected for the extraction of data and qualitative analysis. CONCLUSION: All publications analyzed in this review reported the fistula treatment at the same surgical time as the bone graft, independently of the donor area, the type of cleft treated and the patient's age at operation. There was no consensus among the studies on the best treatment type for oronasal fistulas located in the alveolar region, and further comparative studies between the existing techniques will be necessary to address this question.


Subject(s)
Cleft Lip/surgery , Cleft Palate/surgery , Fistula/surgery , Nose Diseases/surgery , Bone Transplantation , Cleft Lip/complications , Cleft Palate/complications , Fistula/complications , Humans , Nose Diseases/complications , Retrospective Studies
16.
Caries Res ; 53(4): 482-488, 2019.
Article in English | MEDLINE | ID: mdl-30943522

ABSTRACT

Molar-incisor hypomineralization (MIH) is a condition that is defined based on its peculiar clinical presentation. Original reports on the etiology of the condition and possible risk factors were inconclusive, and we refuted the original suggestion that MIH is an idiopathic condition and suggested that MIH has complex inheritance and is due to the interaction of more than one gene and the environment. Our group was the first to suggest MIH has a genetic component that involves genetic variation in genes expressed during dental enamel formation. Later we expanded this work to include genes related to the immune response. In this report, we provide a rationale to explain the variation seen in the clinical presentation of MIH, which can affect just one molar out of the four or just a portion of a particular molar.


Subject(s)
Dental Enamel Hypoplasia/genetics , Incisor/pathology , Molar/pathology , Dental Enamel Hypoplasia/pathology , Humans , Prevalence , Risk Factors
17.
Caries Res ; 53(2): 217-227, 2019.
Article in English | MEDLINE | ID: mdl-30130760

ABSTRACT

Ameloblasts are sensitive cells whose metabolism and function may be affected by inflammatory stimuli. The aim of this study was to evaluate the possible association between polymorphisms in immune response-related genes and molar-incisor hypomineralization (MIH), and their interaction with polymorphisms in amelogenesis-related genes. DNA samples were obtained from 101 nuclear families that had at least 1 MIH-affected child. Eleven single-nucleotide polymorphisms (SNPs) were investigated in immune response genes using TaqMan® technology allele-specific probes. A transmission disequilibrium test was performed to verify overtransmission of alleles in all MIH families, as well as in families only with mild or severe MIH-affected children. Gene-gene interactions between the immune-related and amelogenesis-related polymorphisms were analyzed by determining whether alleles of those genes were transmitted from heterozygous parents more often in association than individually with MIH-affected children. In severe cases of MIH, significant results were observed for rs10733708 (TGFBR1, OR = 3.5, 95% CI = 1.1-10.6). Statistical evidence for gene-gene interactions between rs6654939 (AMELX) and the SNPs rs2070874 (IL4), rs2275913 (IL17A), rs1800872 (IL10), rs1800587 (IL1A), and rs3771300 (STAT1) was observed. The rs2070874 SNP (IL4) was also significantly overtransmitted from heterozygous parents with the rs7526319 (TUFT1) and the rs2355767 (BMP2) SNPs, suggesting a synergistic effect of the transmission of these alleles with susceptibility to MIH. This family-based study demonstrated an association between variation in TGFBR1 and MIH. Moreover, the polymorphisms in immune response and amelogenesis genes may have an additive effect on the risk of developing MIH.


Subject(s)
Amelogenesis , Dental Enamel Hypoplasia , Child , Humans , Incisor , Molar , Polymorphism, Single Nucleotide , Prevalence
18.
Caries Res ; 53(4): 441-446, 2019.
Article in English | MEDLINE | ID: mdl-30759432

ABSTRACT

The aim of this study was to investigate the association between genetic polymorphisms in MMP8, MMP13, and MMP20 with caries experience and developmental defects of enamel (DDE) in children from the Amazon region of Brazil. Den tal caries and DDE data were collected through clinical examination from 216 children. Genomic DNA was extracted from saliva, and genotyping of selected polymorphisms in MMP8 (rs17099443 and rs3765620), MMP13 (rs478927 and rs2252070), and MMP20 (rs1784418) was performed using TaqMan chemistry and endpoint analysis. χ2 or Fisher's exact tests were used to compare allele and genotype distributions between children with caries experience and caries-free children and between DDE-affected and -unaffected children with an established alpha of 5%. The polymorphism rs478927 in MMP13 was associated with caries experience and DDE (p < 0.05). The analysis performed comparing children with both conditions (caries experience plus DDE) and children with neither of the conditions (caries-free chil dren without DDE) demonstrated that children carrying the MMP13 rs478927 TT genotype were more likely to have concomitant occurrence of these two conditions (OR = 5.8, 95% CI 2.1-15.8; p = 0.0003). In conclusion, the genetic polymorphism rs478927 in MMP13 was associated with caries experience and DDE.


Subject(s)
Dental Caries/genetics , Dental Enamel Hypoplasia/genetics , Matrix Metalloproteinase 13/genetics , Brazil/epidemiology , Child , Dental Enamel/pathology , Humans , Polymorphism, Genetic
19.
Clin Oral Investig ; 23(6): 2583-2591, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30315423

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate microbiological changes, oral soft tissue toxicity, and caries-preventive effect of an experimental titanium tetrafluoride (TiF4) varnish compared with a commercially available fluoride varnish (NaF), using in situ and in vivo models. MATERIALS AND METHODS: The treatment groups were the following: TiF4 varnish (experimental varnish), Duraphat® (fluoride positive control), placebo varnish (no fluoride), and no treatment (negative control). The varnishes were applied once over the enamel surface using a microbrush. For the in vivo study, 48 Wistar rats were infected with Streptococcus sobrinus 6715, received a treatment, and were submitted to a cariogenic challenge. After 4 weeks, S. sobrinus, oral soft tissue toxicity, presence, and severity of caries were evaluated. For the in situ study, 12 volunteers took part in this randomized crossover, double-blind study performed in four phases of 14 days each. They used intraoral appliances containing four enamel specimens that received the varnish according treatment group. After 24 h, the varnish was removed and plaque accumulation was allowed. A 20% sucrose solution was dripped over the enamel blocks (10×/day for 5 min each). Total streptococci, S. mutans, Lactobacillus, Candida spp. counts, and presence of white spot lesions were evaluated. Lesion depth was also quantified by micro-CT. RESULTS: For the in vivo study, the fluoride (F-varnishes) showed a statistically significant reduction in the percentage of S. sobrinus compared to the negative control (p < 0.05). Toxicological analysis revealed no abnormalities in oral tissues of rats from all groups, and both F-varnishes reduced the number and severity of caries lesions, without significant differences (p < 0.05). No statistical differences in microbiological counts were seen for the in situ experiment (p > 0.05). However, the specimens treated with TiF4 exhibited lower percentage of white spot lesions and the lesion depth was significantly reduced by F-varnishes (p < 0.05). CONCLUSIONS: F-varnishes showed reduction in the percentage of S. sobrinus in vivo, no oral soft tissue toxicity, and a caries-preventive effect in vivo and in situ. CLINICAL RELEVANCE: NaF varnish is largely used due its capacity to form CaF2-like layer on enamel. Therefore, development of studies focused on other fluoride compounds such as a TiF4 varnish, which may have greater efficacy than NaF against tooth demineralization, is important.


Subject(s)
Cariostatic Agents/pharmacology , Dental Caries/prevention & control , Fluorides/pharmacology , Titanium/pharmacology , Animals , Cross-Over Studies , Double-Blind Method , Female , Fluorides, Topical/pharmacology , Humans , Rats , Rats, Wistar , Sodium Fluoride/pharmacology
20.
J Craniofac Surg ; 30(7): 2082-2084, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31574782

ABSTRACT

BACKGROUND: To evaluate whether genetic polymorphisms in FGF3, FGF10, and FGF13 are associated with temporomandibular disorders (TMD) in patients that presented dentofacial deformities requiring orthognathic surgery. MATERIAL AND METHODS: The sample comprised a total of 113 patients of both sexes. The diagnosis of TMD was performed before orthognathic surgery between Research Diagnostic Criteria for Temporomandibular Disorders (RDC-TMD). According to the TMD assessment, the patients were divided into 3 major groups: myofascial pain, articular disc displacements and other TMD conditions (arthralgia, arthritis, and arthrosis). Genomic DNA was collected from saliva samples and genetic polymorphisms in FGF3 (rs1893047 and rs7932320), FGF10 (rs900379) and FGF13 (rs5931572 and rs5974804) were analyzed by real-time polymerase chain reactions. The association between the TMD conditions and the genetic polymorphisms assessed were analyzed by Poisson Regression. The model was calculated on bivariate and adjusted by sex. The established alpha was 5%. Data were analyzed by using SPSS software (IBM, Armonk, NY). RESULTS: The genetic polymorphisms rs7932320 in FGF3 (P < 0.001) and rs900379 in FGF10 (P < 0.05) were associated with the presence of muscle disorder. The genetic polymorphisms rs1893047 in FGF3, rs900379 in FGF10, and rs5974804 and rs5931572 in FGF13, were associated with the presence of disk displacement (P < 0.05). The genetic polymorphisms rs1893047 and rs7932320 in FGF3, rs900379 in FGF10, and rs900379 in FGF10 were associated with other TMD conditions (P < 0.05). CONCLUSION: Genetic polymorphisms in FGF3, FGF10, and FGF13 genes were associated with temporomandibular disorders in a population with dentofacial deformities.


Subject(s)
Fibroblast Growth Factor 10/genetics , Fibroblast Growth Factor 3/genetics , Fibroblast Growth Factors/genetics , Polymorphism, Genetic , Temporomandibular Joint Disorders/genetics , Adolescent , Adult , Arthralgia , Arthritis , Female , Humans , Male , Middle Aged , Orthognathic Surgery , Orthognathic Surgical Procedures , Osteoarthritis/diagnosis , Surveys and Questionnaires , Temporomandibular Joint Disorders/diagnosis , Temporomandibular Joint Disorders/surgery , Young Adult
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