Comparison between sex and polymorphisms on FKBP5: perception of quality of life in non-syndromic patients. A cross-sectional study.

This study aimed to compare factors that influence perception of quality of life (QoL) in patients scheduled for orthognathic surgery. This was a cross-sectional study with 91 participants from two universities in Curitiba. The orthognathic quality of life questionnaire (OQLQ) was used to assess patients' perceptions of their QoL. Sociodemographic data were collected and facial profiles classified into classes I, II, and III. DNA was extracted from oral mucosal cells and markers rs3800373 and rs1360780 for FKBP prolyl isomerase 5 were genotyped. Statistical analysis was performed using Kruskal-Wallis, Mann-Whitney, and chi-squared tests, with a significance level of 5%. There was a negative impact on general perception of QoL in females (p = 0.019) and in the domains of "oral function" (p=0.032) and "awareness of the deformity" (p=0.009). In the dominant model (CC/CT), the presence of at least one C allele for the rs1360780 marker had a negative impact on QoL in the "facial aesthetics" domain (p = 0.037). The negative impact on QoL was greater in females than in males. The perception of QoL was more negative in individuals with rs1360780 polymorphism on the FKBP5 gene and a CC/CT genotype than it was in those with a TT genotype.

Variation of Tooth Crown Size in Cleft Lip and Palate Patients.

AIM: This study aims to compare the mesiodistal (MD) and buccolingual (BL) tooth crown size (TCS) of adult patients with cleft lip and palate (CL/P) and patients without CL/P. MATERIALS AND METHODS: The sample of this study consisted of 146 adult patients, of both genders, of which 73 were included in the case group (with CL/P) and 73 were included in the control group (without CL/P). Data regarding gender and age and cleft type were collected. In addition, dental models were evaluated to obtain the TCS in the maximum distance of the MD and BL dimensions of all erupted permanent teeth (except third molars). The results were submitted to statistical analysis with a significance level of 0.05. RESULTS: In the upper arch, the central incisors (CI) were smaller in the case group for the MD and BL dimensions (p < 0.05). The lateral incisors (LI) and canine (C) were smaller only in the BL width (p < 0.05) and the second molars (SM), were smaller only in the MD dimensions. In the lower arch, there were significant differences only in the BL width between groups, the CI and LI presented smaller measurements in CL/P patients, while the left first molar (FM) and right first premolar (FPM) were larger (p < 0.05) than in patients without CL/P. CONCLUSION: Patients with CL/P have different sizes in certain teeth compared to patients without CL/P. CLINICAL RELEVANCE: Cleft lip and palate patients usually present important dental anomalies; thereby, the knowledge about trends in tooth size variations in CL/P patients can aid in dental and orthodontic treatment planning to obtain a stable, functional, and esthetic occlusion.

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.

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.

Genetic Polymorphisms of Estrogen Receptors α and ß are Associated with Craniofacial Measurements in Patients With Dentofacial Deformity.

Dentofacial deformities are characterized by abnormalities in craniofacial development that affects the individual's skeletal and occlusion, often causing functional and esthetic problems. In literature, there is an involvement of polymorphisms in estrogen receptor 1 (ESR1) and estrogen receptor 2 (ESR2) genes in craniofacial measurements. The aim of this study was to evaluate a possible association between polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) genes with cephalometric measurements in individuals with dentofacial deformities. This cross-sectional study was performed with 158 individuals in the preoperative period of orthognathic surgery. The cephalometric measurements obtained through lateral cephalogram using Dolphin Imaging software. For genetic analysis, the DNA extracted from epithelial cells of the oral mucosa and were genotyped using the real-time polymerase chain reaction. The data found submitted to statistical analysis, through the Kolmogorov-Smirnov, Mann-Whitney, and Kruskal-Wallis tests, using the IBM SPSS software version 24.0. Considered a significance level of 0.05. We found association between polymorphisms and cephalometric measurements just in the female sex. The polymorphisms ESR1/rs9340799 ( P= 0.003), ESR1/rs2234693 ( P= 0.026), and ESR2/rs1256049 ( P= 0.046) were associated with the upper gonial angle (Ar-Go-N). The polymorphism ESR2/rs1256049 was also associated with the facial axis-rickets (NBa-PtGn) ( P= 0.004), anterior cranial base (SN) ( P= 0.036), and Y-axis (SGn-SN) ( P= 0.031).

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.

Vertical Bonegraft Wrap-A Technique to Increase Soft Tissue Volume in Paranasal Region.

This study presents a technique to gain soft tissue volume in the paranasal region, using a xenogenous bonegraft wrap with a porcine pericardium collagen membrane in a patient with severe paranasal deficiency and midfacial hypoplasia. The technique consisted of using particulate bonegraft that is wrapped on collagen membrane and placed vertically and parallel to the lateral wall of the nasal cavity, over maxillary osteotomies. In a tomographic analysis of linear and volumetric measurements with 14 days and 6 months after the procedure, it was observed good stability of the vertical bonegraft wrap, as well as volume gain in the paranasal region and low absorption rate of the grafted material. This technique presented a satisfactory clinical result, promoting an improvement in facial harmony with gain volume in the paranasal region, guaranteeing greater predictability in the treatment of a patient with significant maxillary advancement surgery.

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.

Mutations in the osteoprotegerin-encoding gene are associated with temporomandibular joint ankylosis.

OBJECTIVE: This study aimed to investigate genetic variations in the osteoprotegerin-encoding gene (TNFRSF11B) in patients with temporomandibular joint ankylosis (TMJA). STUDY DESIGN: The sample comprised 17 patients diagnosed with TMJA, of both sexes with ages ranging from 6 to 57 years old. TNFRSF11B mutational analysis was performed using the Sanger sequencing method with DNA extracted from oral cells, and the functional impact prediction of the variants was assessed using bioinformatic analysis. RESULTS: Sequencing analysis identified 15 (88.23%) patients that presented at least 1 genetic variant in TNFRSF11B. The mutation rs202090603 (p.E33K) was found in 6 individuals, and rs140782326 (p.V281M), rs11573942 (p.L295), and rs1375250340 (p.I389T) were identified in 1 subject each. According to the pathogenicity potential of mutations, 3 variants were considered of low impact (rs2073618, rs202090603, and rs2228568) and 3 as disease causing (rs140782326, rs11573942, and rs1375250340). The variant rs202090603 (p.E33K) was found in the first cysteine domain with differences in the loop positions of p.E33K mutated the 3D structure of osteoprotegerin. CONCLUSION: Two polymorphisms (rs2073618 and rs2228568) and the mutations rs202090603 (p.E33K), rs140782326 (p.V281M), rs11573942 (p.L295), and rs1375250340 (p.I389T) in the TNFRSF11B gene may be associated with TMJA.

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.

Biochemical and X-ray micro-computed tomographic analyses of critical size bone defects grafted with autogenous bone and mercerized bacterial cellulose membranes salified with alendronate.

OBJECTIVES: This study aimed to evaluate the repair of critical-sized bone defects grafted with autogenous bone and mercerized bacterial cellulose membranes (BCm) salified with alendronate (ALN). METHODS: Forty-eight male Wistar rats underwent surgery to create a 5 mm-diameter bone defect in the calvarium. The removed bone was particularized, regrafted into the defect, and covered by a BCm according to the group: control group (CG), simply mercerized BCm; group 1 (G1), negatively charged BCm (BCm-CM-) salified with ALN; and group 2 (G2), positively charged BCm (BCm-DEAE+) salified with ALN. Serum samples were collected preoperatively and before euthanasia to analyze osteoprotegerin (OPG), parathyroid hormone (PTH), sclerostin (SOST), and fibroblast growth factor 23 (FGF23) levels. The animals were euthanized after 15 or 60 d. Calvaria were analyzed using quantitative microtomography (µCT). RESULTS: There was an increased level of PTH in the CG compared to the G2 group, at day 60 (p = 0.019). When analyzing the same group over time, G1 presented an increased FGF23 level on days 15 and 60 (p < 0.05). CG presented an increase in PTH (p = 0.037) at day 60. The µCT analysis detected increased trabecular separation on day 15 in G2 compared to G1 (p = 0.040). CONCLUSIONS: Salification of ionized BCm with ALN had no direct effect on bone repair; however, BCm-CM- increased the levels of FGF23 over time. BCm-DEAE+ decreased PTH levels compared to mercerized BCm. BCm-CM-salified with ALN-induced superior bone quality, with respect to trabecular separation, compared to BCm-DEAE+.

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.

Effect of Age and Sodium Alendronate on Femoral Fracture Repair: Biochemical and Biomechanical Study in Rats.

BACKGROUND: Bisphosphonates are drugs widely used to reduce bone resorption, increase bone mineral density and control age-related bone loss. Although there are studies reporting differences in bone structure between young and old adults, it is still difficult to predict changes related to bone aging. The aim of this study was to evaluate the effect of age and sodium alendronate on bone repair of femoral fractures in rats. METHODS: Wistar rats (n = 40) were allocated into groups: O (control old-rats), Y (control young-rats), OA (alendronate old-rats) and YA (alendronate young-rats). All animals underwent linear fracture surgery followed by fixation. Groups OA and YA received 1 mg/kg alendronate three times a week until euthanasia. Biochemical analysis of calcium and alkaline phosphatase was done. After euthanasia, femurs were evaluated in relation to cross-section and flexural strength, with three-point bending test. Data were submitted to statistical analysis with significance level of 0.05. RESULTS: There was no difference in calcium and alkaline phosphatase levels (p > 0.05). Young animals presented lower cross-section than older animals (p < 0.05). Only fractured side, young animals presented major flexural strength than older animals (p < 0.05). There was no difference between the animals that used or not alendronate in relation to cross-section and flexural strength (p > 0.05). When compared fractured and non-fractured femurs, major cross-section on fractured side was observed (p < 0.05). Flexural strength presented higher values in femurs on non-fractured side (p < 0.05). There was correlation of weight and cross-section (R = +0.91) and weight with flexural strength of fractured and non-fractured side, respectively (R = -0.97 and -0.71). CONCLUSION: In short, there was no difference of calcium and alkaline phosphatase during the bone repair process. Age has influence in cross-section and flexural strength. Alendronate showed no association with these factors.

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.

Orthognathic surgery in class II patients: a longitudinal study on quality of life, TMD, and psychological aspects.

OBJECTIVES: To evaluate, longitudinally, the impacts of orthognathic surgery in patients with skeletal class II malocclusion on oral health-related quality of life (OHRQoL), temporomandibular disorders (TMD) and psychological symptoms. MATERIALS AND METHODS: Forty-three patients with skeletal class II malocclusion who were submitted to orthognathic surgery were evaluated during their preoperative and postoperative periods. They answered the short version of the Oral Health Impact Profile (OHIP-14) and were also diagnosed according to Axes I and II of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). The evolution of OHRQoL and TMD before and after surgery was verified, and the relationships among these variables were found through statistical analysis using Wilcoxon, McNemar, chi-square, and Mann-Whitney tests, with a 5% significance level. RESULTS: The median of the overall OHIP-14 score and five domains decreased after orthognathic surgery (p < 0.05), the functional limitation domain increased (p = 0.014), and the physical disability domain did not show an association (p = 0.133). There were improvements in articular pain (p = 0.016), chronic pain (p = 0.019), and nonspecific physical symptoms excluding pain (p = 0.013). In addition, an association was found between poorer OHRQoL (overall scale and domains) and the Axis II variables of the RDC/TMD (p < 0.05). CONCLUSION: Orthognathic surgery improved perceived OHRQoL, articular pain, and chronic pain. The conditions of Axis II of the RDC/TMD interfered with OHRQoL postoperatively. CLINICAL RELEVANCE: Although orthognathic surgery improves QoL and some TMD conditions in skeletal class II patients, poorer postoperative outcomes are observed when psychological conditions are present.

Human permanent tooth sizes are associated with genes encoding oestrogen receptors.

OBJECTIVE: To evaluate if genetic polymorphisms in the oestrogen receptor 1 (ESR1) and oestrogen receptor 2 (ESR2) genes encoded for oestrogen receptors alpha (ERα) and beta (ERß) are involved in permanent tooth size. DESIGN: Cross-sectional study. SETTING: Orthodontic Clinic at School of Dentistry of Ribeirão Preto, University of São Paulo. PARTICIPANTS: A total of 108 orthodontic patients. MATERIALS AND METHODS: Pre-treatment orthodontic records were evaluated. Dental casts were used to determine the maximum crown measurements of fully erupted permanent teeth in the mesiodistal dimensions. Second and third molars were not included in the analysis. Genomic DNA samples were used for the genotyping of four genetic polymorphisms: ESR1 (rs9340799 and rs2234693) and ESR2 (rs1256049 and rs4986938). The associations between tooth size and sex were evaluated using t test. The associations between tooth size and genotype were analysed with linear regression and adjusted by sex at an alpha of P⩽0.05. RESULTS: Female patients presented smaller tooth size than male patients. A statistically significant difference was observed in almost all teeth (P<0.05). The genetic polymorphisms in rs9340799, rs2234693, rs1256049 and rs4986938 were associated with some tooth sizes in both the maxilla and mandible (P<0.05). CONCLUSION: This study provides evidence that genetic polymorphisms in ESR1 and ESR2 could be associated with tooth size in permanent teeth.

Genetic variants in tooth agenesis-related genes might be also involved in tooth size variations.

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.

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.

Possible association between craniofacial dimensions and genetic markers in ESR1 and ESR2.

OBJECTIVE: To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements. DESIGN: Cross-sectional study. SETTING: School of Dentistry of Ribeirão Preto, University of São Paulo. PARTICIPANTS: A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included. METHODS: Sagittal and vertical measurements (ANB, S-N, Ptm'-A', Co-Gn, Go-Pg, N-Me, ANS-Me, S-Go and Co-Go) from lateral cephalograms were examined for craniofacial evaluation. DNA was extracted from saliva and genetic markers in ESR1 (rs2234693 and rs9340799) and in ESR2 (rs1256049 and rs4986938) were analysed by real-time polymerase chain reaction. Hardy-Weinberg equilibrium was evaluated using the Chi-square test within each marker. The associations between craniofacial dimensions and genotypes were analysed by linear regression and adjusted by sex and age. The established alpha was 5%. RESULTS: Individuals carrying CC in ESR1 rs2234693 had a decrease of -3.146 mm in ANS-Me (P = 0.044). In addition, rs4986938 in ESR2 was associated with S-N measurement (P = 0.009/ ß = -3.465). This marker was also associated with Go-Pg measurement, in which the CC genotype had a decrease of -3.925 mm in the length of the mandibular body (P = 0.043). CONCLUSION: The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.

Left-right asymmetry in palatal rugae is associated with genetic variants in WNT signaling pathway.

OBJECTIVE: The present study evaluated the association between genetic variants in WNT3A and WNT11, and palatal rugae phenotypes. DESIGN: Eighty-five biological unrelated orthodontic patients were included. Dental casts were assessed and data regarding the length, shape, direction and unification of rugae were recorded. The individuals were subsequently classified for each of the following rugae traits: total amount of rugae; bilateral symmetry in the amount, length and shape of the rugae; presence of secondary or fragmentary rugae; presence of unifications; predominant shape; and, direction of the rugae. Genetic variants in WNT3A (rs708111) and WNT11 (rs1533767) were genotyped by real-time PCR. Genotype and allele distributions were compared with an established alpha of 5 %. RESULTS: The wavy and curve rugae were the most common. Genotype/phenotype analyses identified that the presence of the rs708111 A allele (OR = 2.2, 95 % CI: 1.1-4.4, p = 0.01) and the rs1533767 G allele (OR = 2.3, 95 % CI: 1.0-5.3, p = 0.05) increased in more than two times the chance of having bilateral asymmetry in the amount of the rugae. In the recessive model, individuals carrying two risk alleles (AA) of WNT3A rs708111 had a higher risk of presenting this phenotype. SNP-SNP interaction analysis revealed that individuals carrying one rs708111 A allele and rs1533767 G allele showed even a higher chance of having bilateral asymmetry in the amount of rugae (OR = 5.6, 95 % CI: 1.1-28.8, p = 0.03). No associations were identified for other rugae phenotype (p > 0.05). CONCLUSION: Genetic variants in WNT3A and WNT11 were associated with the left-right asymmetry in the amount of palatal rugae.