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.

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.

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.

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.

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.

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.

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.

Dopamine receptor D2 and ankyrin repeat domain containing one in temporomandibular disorder of adolescents.

BACKGROUND: Temporomandibular disorder (TMD) is a multifactorial condition that combines environmental and genetic factors and its prevalence increases during adolescence. AIM: To investigate the association between TMD and genetic polymorphisms in the DRD2 and ANKK1 in a population of Brazilian adolescents. DESIGN: The TMD group included adolescents diagnosed with any of the following TMD subgroups according to the RDC/TMD criteria: myofascial pain, arthralgia and disc displacement and painful TMD. Genomic DNA for molecular analysis was extracted from buccal cells, and genetic polymorphism rs6275 in DRD2 and rs1800497 in ANKK1 were genotyped by real-time polymerase chain reactions using the TaqMan assay. Data were analysed using the Epi Info 3.5.7 and Stata software, with significance level of 0.05. RESULTS: Two hundred fifty-one individuals were included in this study, 148 subjects presented TMD. For disc displacement, the genetic polymorphisms rs6275 was associated in a recessive model (P = 0.04), whereas the rs6276 and rs1800497 presented only a borderline association in a recessive and dominant models, respectively (P = 0.07 and P = 0.06). CONCLUSION: The genetic polymorphism rs6275 in DRD2 was associated with disc displacement in Brazilian adolescents.

The association of genetic polymorphisms in serotonin transporter and catechol-O-methyltransferase on temporomandibular disorders and anxiety in adolescents.

BACKGROUND: Temporomandibular disorder (TMD) is a multifactorial condition involving environmental, psychological and genetic factors. OBJECTIVE: The aim of this case-control study was to evaluate the influence of genetic polymorphisms in 5HTT and COMT on TMD and anxiety in adolescents. METHODS: TMD was diagnosed and classified according to the RDC/TMD criteria. For case group, the following TMD categories were used: myofascial pain, disc displacement, arthralgia and painful TMD (myofascial and arthralgia). Anxiety levels were assessed according to the State-Trait Anxiety Inventory. Genomic DNA was extracted, and genetic polymorphisms were genotyped by TaqMan chemistry and endpoint analysis. Logistic multivariate regression was used to analyse the associations between TMD types and genotypes, anxiety level and genotypes, using an adjusted odds ratio (ORa ; CI 95%) that considered the gender. RESULTS: In 5HTT, the rs1042173 was associated with painful TMD (arthralgia and myofascial pain) (ORc  = 1.97; CI 95%: 1.02-3.77; P = 0.04). Polymorphisms in COMT rs4818 were significantly associated with myofascial pain (ORc  = 2.15; CI 95%: 1.08-4.29; P = 0.02) and were borderline for painful TMD (ORc  = 1.85; CI 95%: 0.97-3.51; P = 0.06) and disc displacement (ORc  = 2.42; CI 95%: 1.00-5.87; P = 0.05). The rs6269 was borderline for myofascial pain (ORc  = 1.82; CI 95%: 0.92-3.59; P = 0.08) and disc displacement (ORc  = 2.38; CI 95% 0.95-5.97; P = 0.06) and also was associated with anxiety (ORa  = 2.34; CI 95% 1.04-5.25; P = 0.03). CONCLUSION: Polymorphisms in 5HTT and COMT are associated with TMD in adolescents. Moreover, polymorphism in COMT is associated with anxiety in adolescents.

Examination of OPG, RANK, RANKL and HIF1A polymorphisms in temporomandibular joint ankylosis patients.

PURPOSE: To evaluate the association between polymorphisms in genes that regulate bone metabolism, such as OPG, RANK, RANKL, and HIF1A, in patients with temporomandibular joint (TMJ) ankylosis. METHODS: The sample consisted of 181 individuals, the study included 17 individuals with TMJ ankylosis and 164 controls. DNA was extracted from buccal epithelial cells. The genotyping of genetic polymorphisms in OPG (rs2073618), RANK (rs3826620), RANKL (rs9594738), and HIF1A (rs2301113 and rs2057482) was performed by real-time PCR using TaqMan™ technology (Applied Biosystems). The data were subjected to statistical analysis with a level of significance of 0.05. RESULTS: The OPG (rs2073618) polymorphism was associated with TMJ ankylosis, both in the additive model and in the dominant model (p < 0.05). In the additive model, when the individuals carried the CC genotype, they presented as 10.80 times more likely to develop the condition (p = 0.03). In the dominant model, individuals that carried at least one C allele were 5.76 times more likely to have TMJ ankylosis, than those with the G allele (p = 0.01). CONCLUSION: The polymorphism rs2073618 of OPG is a possible marker that is associated with the risk of manifestation of TMJ ankylosis.

Anxiety and genetic polymorphisms in catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) are associated with benign migratory glossitis.

OBJECTIVE: The aim of this case-control study was to investigate whether benign migratory glossitis (BMG) is associated with catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) polymorphisms and anxiety. STUDY DESIGN: The study comprised 43 patients with BMG and 114 patients without a history of BMG. We used the Hamilton Anxiety (HAM-A) rating scale to assess each individual's anxiety. We collected DNA from buccal cells and analyzed polymorphisms of COMT and 5HTT. We conducted statistical evaluations by using SPSS software (SPSS Inc., Chicago, IL) and STATA (StataCorp, College Station, TX). Alpha value was set at 0.05. RESULTS: Overall anxiety level was significantly higher in the case group than in the control group (P < .001). In adjusted multiple logistic regression, the COMT markers were not associated with BMG. Individuals with the CC genotype, in rs3813034 of 5HTT, presented an odds ratio (OR) of 2.85 (95% confidence interval [CI] 1.03-7.82; P = .042). Individuals with the TT genotype, in the rs1042173 of 5HTT, presented an OR of 3.77 (95% CI 1.32-10.74; P = .013). For each incremental increase in the anxiety score, there was an 8% increase in the probability of BMG (ORa=1.08; 95% CI 1.03-1.14; P = .007). CONCLUSIONS: Anxiety increases the risk of BMG. Moreover, the occurrence of BMG was associated with polymorphisms in the 5HTT gene.