Effect of genetic polymorphisms rs2301113 and rs2057482 in the expression of HIF-1α protein in periodontal ligament fibroblasts subjected to compressive force.

OBJECTIVE: Many genes and signaling molecules are involved in orthodontic tooth movement, with mechanically and hypoxically stabilized HIF-1α having been shown to play a decisive role in periodontal ligament signaling during orthodontic tooth movement. Thus, this in vitro study aimed to investigate if genetic polymorphisms in HIF1A (Hypoxia-inducible factor α-subunits) influence the expression pattern of HIF-1α protein during simulated orthodontic compressive pressure. METHODOLOGY: Samples from human periodontal ligament fibroblasts were used and their DNA was genotyped using real time Polymerase chain reaction for the genetic polymorphisms rs2301113 and rs2057482 in HIF1A . For cell culture and protein expression experiments, six human periodontal ligament fibroblast cell lines were selected based on the patients' genotype. To simulate orthodontic compressive pressure in fibroblasts, a 2 g/cm2 force was applied under cell culture conditions for 48 hours. Protein expression was evaluated by Western Blot. Paired t-tests were used to compare HIF-1α expression with and without compressive pressure application and unpaired t-tests were used to compare expression between the genotypes in rs2057482 and rs2301113 (p<0.05). RESULTS: The expression of HIF-1α protein was significantly enhanced by compressive pressure application regardless of the genotype (p<0.0001). The genotypes in the genetic polymorphisms rs2301113 and rs2057482 were not associated with HIF-1α protein expression (p>0.05). CONCLUSIONS: Our study confirms that compressive pressure application enhances HIF-1α protein expression. We could not prove that the genetic polymorphisms in HIF1A affect HIF-1α protein expression by periodontal ligament fibroblasts during simulated orthodontic compressive force.

Genetic polymorphisms are involved in oral health-related quality of life in skeletal class III patients submitted to orthognathic surgery.

OBJECTIVE: This study aimed to evaluate whether sex and genetic polymorphisms impact the oral health-related quality of life (OHRQoL) preoperatively and the difference between preoperative and postoperative OHRQoL in skeletal Class III patients submitted to orthognathic surgery. MATERIALS AND METHODS: This longitudinal study consisted of ninety-nine patients with skeletal Class III malocclusion who required orthognathic surgery. The Oral Health Impact Profile-14 (OHIP-14) is a questionnaire used to assess the OHRQoL with a 5-point Likert-type scale, covering seven domains related to physical and psychosocial factors. The questionnaire was applied in the preoperative and postoperative periods, and the difference scores were calculated to assess the OHRQoL after orthognathic surgery. The DNA was extracted from oral mucosa cells to evaluate genetic polymorphisms in ANKK1, DRD2, ESR1, and ESR2 through real-time PCR. RESULTS: There was an improvement in all OHRQoL domains following orthognathic surgery (p < 0.05). In the preoperative evaluation, women presented worse OHRQoL (p < 0.05) than men. There was no statistical difference between sex and the OHRQoL after surgery (p > 0.05). When evaluating the polymorphisms and preoperative OHIP-14 scores, CT genotype patients for rs1800497 (ANKK1) had a worse perception of the physical pain domain than CC genotype (p = 0.026), and CC genotype patients for rs1256049 (ESR2) had a worse perception of the functional limitation domain than CT genotype (p = 0.002). In the analysis between polymorphisms and postoperative and preoperative difference scores, CT genotype patients for rs1256049 (ESR2) had a greater improvement in the perception of the physical pain domain than the CC genotype (p = 0.031). In rs6275 and rs6276 (DRD2), patients with the CC genotype worsened the perception of the functional limitation domain than the TT genotype (p = 0.045), and AA genotype patients worsened the perception of the functional limitation domain than GG genotype (p = 0.048) after surgery, respectively. In addition, patients with the CT genotype for rs1800497 (ANKK1) had a greater improvement of OHRQoL perception in the total scale than the TT genotype (p = 0.018), and CT genotype patients had a greater improvement in the perception of function limitation domain than TT genotype (p = 0.017). CONCLUSION: Women have a worse perception of OHRQoL in the preoperative period of orthognathic surgery. Furthermore, polymorphisms in the ANKK1, DRD2, and ESR2 genes could be involved with OHRQoL in the preoperative period and following orthognathic surgery. CLINICAL RELEVANCE: The knowledge of the genetic background concerning OHRQoL in skeletal class III patients would aid in clinical practice to screen for associated genetic factors and prevent OHRQoL deterioration, especially after orthognathic surgery, considering that patients' genetic profiles would soon be available.

Polymorphisms in hormonal-related genes might be associated with variations in permanent tooth crown size.

BACKGROUND: The variability in tooth crown size (TCS) is influenced by genetic factors and might be regulated by the difference in hormonal response. MATERIALS AND METHODS: This study aimed to evaluate the association between variations in TCS of permanent teeth with associated factors and genetic polymorphisms in hormonal-related genes (ESR1, ESR2 and PTH). This cross-sectional study involved dental casts from 86 individuals of both sexes. Dental casts were used to determine the maximum TCS of all fully erupted permanent teeth (except third molars) in the mesiodistal (MD) and buccolingual (BL) dimensions. Data such as sex, ethnicity, dental group (incisor, canine, premolar and molar), dental arch (upper and lower) and genetic polymorphisms of hormonal-related genes were used. The DNA from each patient was collected to evaluate the genetic polymorphisms in ESR1 (rs2234693 and rs9340799), ESR2 (rs1256049 and rs4986938) and PTH (rs694, rs6256 and rs307247) through real-time PCR. The data were submitted to statistical analysis with a significance level of 0.05. RESULTS: In the MD dimension, the sex, dental group and dental arch were associated with variation in TCS (P < .05). In the BL dimension, the sex, dental group, dental arch and polymorphism in rs694 and rs307247 were associated with variation in TCS. CONCLUSIONS: In short, this study suggests that genetic polymorphisms of PTH are associated with variations in the BL TCS of permanent human teeth.

Associations between Anxiety, Depression, Chronic Pain and Oral Health-Related Quality of Life, Happiness, and Polymorphisms in Adolescents' Genes.

Adolescence is marked by changes and vulnerability to the emergence of psychological problems. This study aimed to investigate associations between anxiety/depression/chronic pain and oral health-related quality of life (OHRQoL)/happiness/polymorphisms in the COMT, HTR2A and FKBP5 genes in Brazilian adolescents. A cross-sectional study was conducted with ninety adolescents 13 to 18 years. Anxiety, depression and chronic pain were evaluated using the RDC/TMD. The Oral Health Impact Profile was used to assess oral OHRQoL. The Subjective Happiness Scale was used to assess happiness. Single-nucleotide polymorphisms in COMT (rs165656, rs174675), HTR2A (rs6313, rs4941573) and FKBP5 (rs1360780, rs3800373) were genotyped using the Taqman® method. Bivariate and multivariate logistic regression analyses were performed (p < 0.05). Chronic pain and depression were associated with feelings of happiness (p < 0.05). A significant inverse association was found between anxiety and OHRQoL (p = 0.004). The presence of minor allele C of COMT rs174675 was significantly associated with depression (p = 0.040). Brazilian adolescents with depression and chronic pain considers themselves to be less happy than others and those with anxiety are more likely to have a negative impact on OHRQoL. Moreover, the rs174675 variant allele in the COMT gene was associated with depressive symptoms in Brazilian adolescents.

Prevalence and associated factors of myofascial pain in orthognathic patients with skeletal class II malocclusion.

Orthognathic patients with skeletal class II malocclusion frequently suffer from myofascial pain (MP). PURPOSE: This study aimed to evaluate the prevalence and associated factors of MP in these patients. METHODS: This cross-sectional study was performed in adult patients with skeletal Class II malocclusion requiring orthognathic surgery. They were divided according to the presence or absence of MP. The predictor variables were craniofacial morphology, sex, temporomandibular disorders, chronic pain, depression, and polymorphisms of dopamine receptors DRD2 (rs6275 and rs6276) and ANKK1 (rs1800497) genes. Data were submitted to statistical analyses using the linear regression model and Poisson regression with a significance level of 0.05. RESULTS: Sixty-five individuals were selected, of which 50 (76.92%) were females. A total of 21 (32.3%) patients had MP. Individuals with MP showed a decrease in the mandible gonial angle (p = 0.042) and an increased risk of having temporomandibular joint (TMJ) disc displacement (p = 0.003), TMJ pain (p = 0.030), chronic pain (p = 0.001), and severe depression (p = 0.015). Additionally, individuals carrying AA and AG genotypes in rs6275, and CC genotype in rs6276, were more likely to have MP (p < 0.05). CONCLUSION: In this study, 32.3% of skeletal class II orthognathic patients had MP, which was associated with a decreased gonial angle, TMJ disc displacement, TMJ pain, chronic pain, depression, and polymorphisms in the DRD2 gene.

Effect of genetic polymorphisms rs2301113 and rs2057482 in the expression of HIF-1α protein in periodontal ligament fibroblasts subjected to compressive force

Abstract Objective Many genes and signaling molecules are involved in orthodontic tooth movement, with mechanically and hypoxically stabilized HIF-1α having been shown to play a decisive role in periodontal ligament signaling during orthodontic tooth movement. Thus, this in vitro study aimed to investigate if genetic polymorphisms in HIF1A (Hypoxia-inducible factor α-subunits) influence the expression pattern of HIF-1α protein during simulated orthodontic compressive pressure. Methodology Samples from human periodontal ligament fibroblasts were used and their DNA was genotyped using real time Polymerase chain reaction for the genetic polymorphisms rs2301113 and rs2057482 in HIF1A . For cell culture and protein expression experiments, six human periodontal ligament fibroblast cell lines were selected based on the patients' genotype. To simulate orthodontic compressive pressure in fibroblasts, a 2 g/cm2 force was applied under cell culture conditions for 48 hours. Protein expression was evaluated by Western Blot. Paired t-tests were used to compare HIF-1α expression with and without compressive pressure application and unpaired t-tests were used to compare expression between the genotypes in rs2057482 and rs2301113 (p<0.05). Results The expression of HIF-1α protein was significantly enhanced by compressive pressure application regardless of the genotype (p<0.0001). The genotypes in the genetic polymorphisms rs2301113 and rs2057482 were not associated with HIF-1α protein expression (p>0.05). Conclusions Our study confirms that compressive pressure application enhances HIF-1α protein expression. We could not prove that the genetic polymorphisms in HIF1A affect HIF-1α protein expression by periodontal ligament fibroblasts during simulated orthodontic compressive force.

Association between genetic polymorphisms in the melatonin receptor type 1 A gene and sleep bruxism.

OBJECTIVE: This study evaluated whether single nucleotide polymorphisms in the melatonin receptor type 1 A gene are associated with sleep bruxism in a Brazilian population. DESIGN: Individuals with suspected sleep-related problems were evaluated using polysomnography, following the recommendations proposed by the American Academy of Sleep Medicine and the Research Diagnostic Criteria for Temporomandibular Disorders. Deoxyribonucleic acid (DNA) samples were collected, and three single nucleotide polymorphisms in the melatonin receptor type 1 A gene (rs13140012, rs6553010, and rs6847693) were selected and genotyped using real-time polymerase chain reaction (RT-PCR). Chi-square and odds ratio tests were used to analyze genotypes and alleles individually, while using the plink software for haplotypes. A confidence interval of 95% was considered, and statistical significance was set at p < 0.05. RESULTS: This study included 48 individuals aged between 21 and 80 years, with 27 males and 21 females. From this sample, 17 individuals were diagnosed with sleep bruxism and 31 without bruxism. No associations were found between sleep bruxism and single nucleotide polymorphisms in either the genotypic, allelic, dominant, or recessive models (p > 0.05). Haplotype genetic analysis also did not reveal any association between single nucleotide polymorphisms and sleep bruxism (p > 0.05). CONCLUSION: The genetic polymorphisms rs6553010, rs13140012, and rs6847693 were not associated with sleep bruxism in the studied population.

Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.

The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs and symptoms of temporomandibular disorder (TMD) in construction workers. This cross-sectional study included only male subjects. All construction workers were healthy and over 18 years age. Illiterate workers and functionally illiterate workers were excluded. The diagnosis of TMD was established according to the Research Diagnostic Criteria for TMD (RDC/TMD). Genomic DNA was used to evaluate the genetic polymorphisms ANKK1 (rs1800497) and DRD2 (rs6275; rs6276) using Real-Time PCR. Chi-square or Fisher exact tests were used to evaluate genotypes and allele distribution among the studied phenotypes. The established alpha of this study was 5%. The sample included a total of 115 patients. The age of the patients ranged from 19 to 70 years (mean age 38.2; standard deviation 11.7). Chronic pain (87.7%), disc displacement (38.2%), and joint inflammation (26.9%) were the most frequently observed signs and symptoms. The genetic polymorphism rs6276 in DRD2 was associated with chronic pain (p=0.033). In conclusion, our study suggests that genetic polymorphisms in DRD2 and ANKK1 may influence TMD signs and symptoms in a group of male construction workers.

Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes

Abstract The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs and symptoms of temporomandibular disorder (TMD) in construction workers. This cross-sectional study included only male subjects. All construction workers were healthy and over 18 years age. Illiterate workers and functionally illiterate workers were excluded. The diagnosis of TMD was established according to the Research Diagnostic Criteria for TMD (RDC/TMD). Genomic DNA was used to evaluate the genetic polymorphisms ANKK1 (rs1800497) and DRD2 (rs6275; rs6276) using Real-Time PCR. Chi-square or Fisher exact tests were used to evaluate genotypes and allele distribution among the studied phenotypes. The established alpha of this study was 5%. The sample included a total of 115 patients. The age of the patients ranged from 19 to 70 years (mean age 38.2; standard deviation 11.7). Chronic pain (87.7%), disc displacement (38.2%), and joint inflammation (26.9%) were the most frequently observed signs and symptoms. The genetic polymorphism rs6276 in DRD2 was associated with chronic pain (p=0.033). In conclusion, our study suggests that genetic polymorphisms in DRD2 and ANKK1 may influence TMD signs and symptoms in a group of male construction workers.

Resumo O objetivo do estudo foi explorar a influência de polimorfismos genéticos em ANKK1 e DRD2 sobre os sinais e sintomas da disfunção temporomandibular (DTM) em trabalhadores da construção civil. Este estudo transversal incluiu apenas indivíduos do sexo masculino. Todos os trabalhadores da construção civil eram saudáveis ​​e maiores de 18 anos. Foram excluídos os trabalhadores analfabetos e analfabetos funcionais. O diagnóstico de DTM foi estabelecido de acordo com o Research Diagnostic Criteria para DTM (RDC/TMD). O DNA genômico foi usado para avaliar os polimorfismos genéticos ANKK1 (rs1800497) e DRD2 (rs6275; rs6276) usando PCR em tempo real. Testes qui-quadrado ou exato de Fisher foram utilizados para avaliar genótipos e distribuição de alelos entre os fenótipos estudados. O alfa estabelecido deste estudo foi de 5%. A amostra incluiu um total de 115 pacientes. A idade dos pacientes variou de 19 a 70 anos (média de idade 38,2; desvio padrão 11,7). Dor crônica (87,7%), deslocamento de disco (38,2%) e inflamação articular (26,9%) foram os sinais e sintomas mais observados. O polimorfismo genético rs6276 em DRD2 foi associado a dor crônica (p=0,033). Em conclusão, nosso estudo sugere que polimorfismos genéticos em DRD2 e ANKK1 podem influenciar sinais e sintomas de DTM em um grupo de trabalhadores da construção civil do sexo masculino.

Association of the estrogen receptor gene with oral health-related quality of life in patients with dentofacial deformities.

This study aimed to evaluate the associations between oral health-related quality of life (OHRQoL) and patient-associated factors and polymorphisms in the estrogen receptor 1 (ESR1) and 2 (ESR2) genes in patients with dentofacial deformities (DFD). This cross-sectional study included 234 adult individuals. Data such as age, sex, and the type of facial profile (I, II, or III), were collected, and the short-form oral health impact profile 14 (OHIP-14) questionnaire was used to assess their OHRQoL. DNA was collected from oral mucosa cells, and the polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) were evaluated using real-time polymerase chain reaction. The data were subjected to statistical analysis at a significance level of 5%. Individuals over 28 years of age exhibited worse OHRQoL (p = 0.003) than individuals aged less than or equal to 28 years. Women had worse OHRQoL than men (p < 0.001). Profile II individuals had worse OHRQoL in the social disability domain than profile III individuals (p = 0.030). Genetic analysis showed that rs9340799 was associated with OHRQoL in the functional limitation domain, and GG individuals exhibited worse OHRQoL than individuals carrying the AA/AG genotypes (p < 0.030). In the social handicap domain, individuals with GG genotype in rs9340799 exhibited worse OHRQoL than AG individuals (p < 0.043). Collectively, our results reveal that factors including age, sex, and type of facial profile, are associated with OHRQoL in patients with DFD. In addition, individuals with the GG genotype in rs9340799 (ESR1) may experience a negative impact on OHRQoL in the functional limitation and social handicap domains.

Genetic polymorphisms are associated with alterations in anxiety levels and vital signs in patients undergoing third molar extractions.

OBJECTIVE: The objective of this study was to evaluate the association between SLC6A4 (rs1042173 and rs3813034), DRD2 (rs6275 and rs6276), ANKK1 (rs1800497), and COMT (rs174675) genetic polymorphisms and alterations in anxiety levels and vital signs in individuals undergoing third molar extractions. STUDY DESIGN: One hundred sixty-eight individuals were evaluated at the pre-, trans-, and postoperative periods by checking systolic blood pressure, diastolic blood pressure, heart rate, respiratory rate, and body temperature. Anxiety levels were assessed using the State-Trait Anxiety Inventory (STAI). Buccal mucosa cells were collected for genetic evaluation using real-time polymerase chain reaction. Statistical analysis was performed at a significance level of 5%. RESULTS: The level of anxiety was associated with rs1800497 for STAI-Trait (P = .031) and rs174675 for STAI-State (P = .007). Considering the vital signs, there was a significant difference between the values of respiratory rate and rs1042173 (P = .029), rs3813034 (P = .024), and rs6275 (P = .025). The diastolic blood pressure values differed significantly for rs1042173 (P = .042), and the body temperature values differed significantly for rs174675 (P = .016). CONCLUSIONS: Polymorphisms in SLC6A4, DRD2, ANKK1, and COMT genes could be associated with alterations in anxiety levels and vital signs in individuals undergoing third molar extractions.

Association of the estrogen receptor gene with oral health-related quality of life in patients with dentofacial deformities

Abstract This study aimed to evaluate the associations between oral health-related quality of life (OHRQoL) and patient-associated factors and polymorphisms in the estrogen receptor 1 (ESR1) and 2 (ESR2) genes in patients with dentofacial deformities (DFD). This cross-sectional study included 234 adult individuals. Data such as age, sex, and the type of facial profile (I, II, or III), were collected, and the short-form oral health impact profile 14 (OHIP-14) questionnaire was used to assess their OHRQoL. DNA was collected from oral mucosa cells, and the polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) were evaluated using real-time polymerase chain reaction. The data were subjected to statistical analysis at a significance level of 5%. Individuals over 28 years of age exhibited worse OHRQoL (p = 0.003) than individuals aged less than or equal to 28 years. Women had worse OHRQoL than men (p < 0.001). Profile II individuals had worse OHRQoL in the social disability domain than profile III individuals (p = 0.030). Genetic analysis showed that rs9340799 was associated with OHRQoL in the functional limitation domain, and GG individuals exhibited worse OHRQoL than individuals carrying the AA/AG genotypes (p < 0.030). In the social handicap domain, individuals with GG genotype in rs9340799 exhibited worse OHRQoL than AG individuals (p < 0.043). Collectively, our results reveal that factors including age, sex, and type of facial profile, are associated with OHRQoL in patients with DFD. In addition, individuals with the GG genotype in rs9340799 (ESR1) may experience a negative impact on OHRQoL in the functional limitation and social handicap domains.

Individuals requiring orthognathic surgery have more depression and pain than controls.

The objective of this study was to evaluate if individuals with dentofacial deformities (DFD) who require orthognathic surgery are affected more by depression and pain. A case-control study was performed with 195 individuals. In the DFD group, 145 individuals with Class II and III malocclusion requiring orthognathic surgery were selected. The control group was composed of 50 individuals with no DFD. All patients were diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Data were analyzed with a significance level of 0.05. The DFD group more often presented severe depression (p = 0.020) and chronic pain (p = 0.017). They also presented higher prevalence of Nonspecific Physical Symptoms Including Pain (P = 0.002) and Nonspecific Physical Symptoms Excluding Pain (p = 0.002). Concerning TMD symptoms, the DFD group had more myofascial (p = 0.002) and articular pain (p = 0.041). Therefore, the results of this study suggest that depression and pain are more common in individuals with DFD requiring orthognathic surgery compared with individuals without DFD.

Interaction Between Environmental Factors and Polymorphisms in a Hypoxia-Related Gene (HIF-1) Associated with Hypomineralized Second Primary Molars.

Purpose: This study's purpose was to investigate whether polymorphisms in the HIF-1 encoding gene and hypoxia-related environmental factors were associated with hypomineralized second primary molars (HSPMs). Methods: From a total of 731 children from Curitiba, Paraná, Brazil, were selected, the prevalence of HSPMs in this population was 9.4 percent, representing 69 cases (HSPMs) and 662 controls. The environmental factors were collected via questionnaire. HSPMs were evaluated by calibrated examiners. Two genetic polymorphisms (rs2301113 and rs2057482) in the HIF-1 gene were genotyped by polymerase chain reaction in real time. Associations were tested by Poisson regression analysis (Prevalence Ratioadjusted; P<0.05). Results: In the multiple variable model, including the environmental factors and genetic polymorphisms, maternal use of an illicit drug (Prevalence Ratioadjusted; equals 4.52; P<0.001; 95 percent confidence interval [95% CI] equals 2.38-8.53), maternal diseases during pregnancy (Prevalence Ratioadjusted; equals 1.97; P=0.034; 95% CI equals 1.05 to 3.71), and respiratory diseases during childhood (Prevalence Ratioadjusted; equals 2.66; P=0.003; 95% CI equals 1.41 to 5.03) increased significantly the prevalence of HSPMs. In the presence of environmental factors, individuals carrying at least one C allele in rs2057482 had a lower prevalence of HSPMs (Prevalence Ratioadjusted; equals 0.51; P=0.048; 95% CI equals 0.27 to 0.99). Conclusions: Children who had hypoxia-related factors presented with a higher prevalence of hypomineralized second primary molars. A C allele in rs2057482 served as protection against HSPMs in hypoxia conditions.

Odontogenesis-related candidate genes involved in variations of permanent teeth size.

OBJECTIVE: The aim of the study was to evaluate the association between genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 and variations in permanent tooth size (TS). MATERIALS AND METHODS: This cross-sectional study evaluated 110 individuals' dental casts to determine the maximum tooth crown size of all fully erupted permanent teeth (third molars were excluded) in the mesiodistal (MD) and buccolingual (BL) dimensions. Genomic DNA was obtained from the epithelial cells of the oral mucosa to evaluate the genetic polymorphisms in RUNX2 (rs59983488 and rs1200425), BMP4 (rs17563), BMP2 (rs235768 and rs1005464), TGFß1 (rs1800470), EGF (rs4444903), and SMAD6 (rs2119261 and rs3934908) through real-time PCR. The data were submitted to statistical analysis with a significance level of 0.05. RESULTS: The genetic polymorphisms rs59983488, rs1200425, rs17563, rs235768, rs1005464, rs1800470, and rs4444903 were associated with MD and BL TS of the upper and lower arches (p < 0.05). The polymorphism rs2119261 was associated with variation in TS only in the upper arch (p < 0.05). The rs3934908 was not associated with any TS measurement (p > 0.05). CONCLUSIONS: In summary, this study reports novel associations between variation in permanent TS and genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 indicating a possible role of these genes in dental morphology. CLINICAL RELEVANCE: Polymorphisms in odontogenesis-related genes may be involved in dental morphology enabling a prediction of permanent TS variability. The knowledge regarding genes involved in TS might impact the personalized dental treatment, considering that patients' genetic profile would soon be introduced into clinical practice to improve patient management.

Individuals requiring orthognathic surgery have more depression and pain than controls

Abstract The objective of this study was to evaluate if individuals with dentofacial deformities (DFD) who require orthognathic surgery are affected more by depression and pain. A case-control study was performed with 195 individuals. In the DFD group, 145 individuals with Class II and III malocclusion requiring orthognathic surgery were selected. The control group was composed of 50 individuals with no DFD. All patients were diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Data were analyzed with a significance level of 0.05. The DFD group more often presented severe depression (p = 0.020) and chronic pain (p = 0.017). They also presented higher prevalence of Nonspecific Physical Symptoms Including Pain (P = 0.002) and Nonspecific Physical Symptoms Excluding Pain (p = 0.002). Concerning TMD symptoms, the DFD group had more myofascial (p = 0.002) and articular pain (p = 0.041). Therefore, the results of this study suggest that depression and pain are more common in individuals with DFD requiring orthognathic surgery compared with individuals without DFD.

The relationship between molar incisor hypomineralization, dental caries, socioeconomic factors, and polymorphisms in the vitamin D receptor gene: a population-based study.

OBJECTIVES: The purpose of this cross-sectional study was to investigate whether polymorphisms in vitamin D receptor (VDR) genes increase the prevalence of dental caries, molar incisor hypomineralization (MIH), and hypomineralized primary second molars (HPSM). MATERIAL AND METHODS: A representative population-based sample of 731 schoolchildren, 8 years of age, was randomly selected in Curitiba, Paraná, Brazil. MIH, HPSM, and dental caries were clinically assessed by four calibrated examiners (kappa > 0.80) using European Academy of Pediatric Dentistry (2003) criteria, the modified Developmental Defects of Enamel (DDE) index, and the Decayed, Missing, or Filled Teeth (DMFT) index by the World Health Organization (2013), respectively. The VDR rs739837 and rs2228570 polymorphisms were genotyped using real-time polymerase chain reaction. Associations were analyzed by Poisson regression with robust variance (α = 0.05). RESULTS: Schoolchildren with MIH presented a higher prevalence of dental caries (DMFT > 1, PR = 2.52, confidence interval = 1.60-3.97, p ≤ 0.001). No association was observed between MIH, HPSM, and dental caries, with rs739837 and rs2228570 polymorphisms. Individuals with the GT/GG genotype in rs739837 polymorphism presented a higher prevalence of MIH in molars and incisors than individuals TT (PR = 2.34, confidence interval = 1.08-5.07, p = 0.03). CONCLUSION: Children with MIH presented a significant higher prevalence of dental caries than children without MIH. To carry at least one G allele in rs739837 was associated to higher prevalence of MIH in molars and incisors. CLINICAL RELEVANCE: Our findings suggested that more severe cases with incisors affected by MIH could be associated with polymorphism in VDR gene.

Association between oestrogen receptors and female temporomandibular disorders.

Objective: To evaluate if temporomandibular disorders (TMDs) are associated with genetic polymorphisms in ESR1 and ESR2, which are genes encoding oestrogen receptor alpha (ERα) and beta (ERß). Also, we included an animal model to check if ERα and ERß are expressed in the temporomandibular joint (TMJ) during adolescence.Materials and methods: A total of 139 teenagers and 93 adults were diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMDs). The DNA was collected and the markers ESR1 and ERS2 were genotyped. Additionally, immunohistochemistry was performed in TMJ tissues from female Wistar rats during puberty. All data were submitted to statistical analysis with confidence interval of 95%.Results: Teenagers presented more disc displacement and arthralgia than adults (p < .05). The genetic polymorphism rs1256049 in ESR2 was associated with disc displacement (p = .040; OR = 10.50/95%CI 1.17-98.74) and arthralgia (p = .036; OR = 7.20/95%CI 1.10-46.88) in adults. The ERα and ERß are expressed in rat TMJ tissues.Conclusions: We provide evidence that ESR2 is associated with TMD and could be a genetic marker for this condition in adult women. Furthermore, oestrogens receptors are presented in TMJ of adolescent female rats.

Impact of orthognathic surgery on quality of life: Predisposing clinical and genetic factors.

INTRODUCTION: Dentofacial deformities have an impact on quality of life (QOL). Many factors can influence this perception, including genetic aspects. ANKK1 and DRD2 genes are associated with dopaminergic system and could modulate behavioral dysfunction. PURPOSE: The impact of orthognathic surgery and associated factors on QOL of adults was evaluated. MATERIAL AND METHODS: The abbreviated World Health Organization Quality of Life questionnaire (WHOQOL-BREF) was applied to patients from two surgery services one week before (T0) and six months after surgery (T1). The independent variables were age, sex, race, facial pattern, presence of jaw asymmetry and vertical deformities, and polymorphisms associated with ANKK1 and DRD2 genes. Descriptive and bivariate analyses were performed. RESULTS: There was improvement in the perception of QOL from T0 to T1 in the general score, in the physical and psychological domains, and in the quality of life and general health perception (QOLGHP) (p < 0.001). In this interval, individuals aged ≥30 years reported positive impacts on all outcomes (p < 0.05), whereas in women this improvement did not occur only for the physical domain (p = 0.136). There was an association between the polymorphisms associated with the ANKK1 gene (rs1800497) and the perception of QOL in the social relationship's domain (p = 0.021) and QOLGHP (p = 0.042). The other clinical conditions were not associated with outcomes (p > 0.05). CONCLUSION: Perception of QOL of patients improved following orthognathic surgery in physical, psychological, and QOLGHP domains. Aged ≥30 years, being women and polymorphisms associated with the ANKK1 gene were related to positive impacts.