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

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

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

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.