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1.
J Clin Pediatr Dent ; 44(5): 364-372, 2020 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-33181847

RESUMEN

OBJECTIVES: Temporomandibular disorder (TMD) is considered a functional disorder with multifactorial aspects. The goal of this study was to investigate if genetic polymorphisms in the COL2A1 gene could be associated with TMD in adolescents. STUDY DESIGN: The case group (TMD-affected) included individuals diagnosed with any of the following TMD subgroups according to the RDC/TMD criteria: myofascial pain, disc displacements and arthralgia. Genomic DNA for molecular analysis was extracted from buccal cells and genetic polymorphisms in COL2A1 were genotyped by real time polymerase chain reactions using the TaqMan assay. Data were analyzed using the Epi Info 3.5.7 and Stata software. RESULTS: 249 subjects were included in this study (148 subjects "affected" by TMD). There were no significant differences between the affected and unaffected individual (p>0.05), for TMD, arthralgia and myofascial pain however, rs2276454 was borderline in the genotype distribution (p=0.07) and was associated with disc displacement (p=0.03) in the allelic distribution. Recessive model showed significant differences between groups for with disc displacement (p=0.02). CONCLUSIONS: Genetic polymorphisms in COL2A1 are not associated with myofascial pain, arthralgia or TMD in adolescents but this study provides evidence that rs2276454 is involved in the disc displacement of the temporomandibular joint.


Asunto(s)
Luxaciones Articulares , Polimorfismo Genético , Trastornos de la Articulación Temporomandibular , Síndrome de la Disfunción de Articulación Temporomandibular , Adolescente , Artralgia , Colágeno Tipo II/genética , Dolor Facial , Humanos , Mucosa Bucal , Articulación Temporomandibular , Trastornos de la Articulación Temporomandibular/genética
2.
PLoS One ; 15(7): e0236425, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32726330

RESUMEN

Craniofacial asymmetry, mandibular condylar modeling and temporomandibular joint disorders are common comorbidities of skeletally disproportionate malocclusions, but etiology of occurrence together is poorly understood. We compared asymmetry, condyle modeling stability and temporomandibular health in a cohort of 128 patients having orthodontics and orthognathic surgery to correct dentofacial deformity malocclusions. We also compared ACTN3 and ENPP1 genotypes for association to clinical conditions. Pre-surgical posterior-anterior cephalometric and panometric radiographic analyses; jaw pain and function questionnaire and clinical examination of TMD; and SNP-genotype analysis from saliva samples were compared to assess interrelationships. Almost half had asymmetries in need of surgical correction, which could be subdivided into four distinct morphological patterns. Asymmetric condyle modeling between sides was significantly greater in craniofacial asymmetry, but most commonly had an unanticipated pattern. Often, longer or larger condyles occurred on the shorter mandibular ramus side. Subjects with longer ramus but dimensionally smaller condyles were more likely to have self-reported TMD symptoms (p = 0.023) and significantly greater clinical diagnosis of TMD (p = 0 .000001), with masticatory myalgia most prominent. Genotyping found two significant genotype associations for ACTN3 rs1671064 (Q523R missense) p = 0.02; rs678397 (intronic SNP) p = 0.04 and one significant allele association rs1815739 (R577X nonsense) p = 0.00. Skeletal asymmetry, unusual condyle modeling and TMD are common and interrelated components of many dentofacial deformities. Imbalanced musculoskeletal functional adaptations and genetic or epigenetic influences contribute to the etiology, and require further investigation.


Asunto(s)
Actinina/genética , Deformidades Dentofaciales/genética , Predisposición Genética a la Enfermedad , Hidrolasas Diéster Fosfóricas/genética , Pirofosfatasas/genética , Trastornos de la Articulación Temporomandibular/genética , Adulto , Mentón/diagnóstico por imagen , Modelos Dentales , Deformidades Dentofaciales/diagnóstico por imagen , Deformidades Dentofaciales/patología , Deformidades Dentofaciales/cirugía , Cara/diagnóstico por imagen , Femenino , Estudios de Asociación Genética , Humanos , Maxilares/diagnóstico por imagen , Masculino , Maloclusión/diagnóstico por imagen , Maloclusión/genética , Maloclusión/patología , Maloclusión/cirugía , Cóndilo Mandibular/diagnóstico por imagen , Cóndilo Mandibular/patología , Cóndilo Mandibular/cirugía , Procedimientos Quirúrgicos Ortognáticos , Polimorfismo de Nucleótido Simple/genética , Trastornos de la Articulación Temporomandibular/diagnóstico por imagen , Trastornos de la Articulación Temporomandibular/patología , Trastornos de la Articulación Temporomandibular/cirugía
3.
PLoS One ; 15(3): e0229245, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32130259

RESUMEN

Aquaporins (AQPs) are membrane channels that provide for transport of water and other small molecules across the lipid bilayer of cells. Their function is essential for physiologic processes such as cell volume regulation, chondrocyte hypertrophy during appendicular skeletal growth, water reabsorption in the kidney tubules, and water excretion by the salivary glands. The ten AQP isoforms show tissue specificity and are involved in different pathologies and inflammatory diseases. This study addresses the hypothesis that arthritis, periodontitis, and temporomandibular joint disorders (TMDs) can be influenced by variation in the AQP genes at 12q13.12 locus. Salivary samples of 688 individuals were obtained from the Dental Registry and DNA Repository project at the University of Pittsburgh. Ten polymorphisms in four AQP genes (AQP1, 2, 5, and 6) were genotyped and correlated to disease status as reported by patients. Associations were found between the single nucleotide polymorphism (SNP) rs467323 in AQP2 and TMD in both genotypic (p = 0.03) and recessive (p = 0.02) models, and between rs1996315 in AQP6 and periodontitis (p = 0.05). Combined analysis of TMD and periodontitis showed an association with rs3741559 in AQP2 (p = 0.02). When conducting haplotype analysis of rs467323 and rs10875989 in AQP2, the haplotype CT showed an association with the TMD phenotype (p = 0.007). Our results suggest that the aquaporin locus at 12q13.12 may contribute to the pathogenesis of inflammatory conditions such as periodontitis and TMD. Thus, oral and skeletal health are correlated and potential susceptibility screening strategies may be developed.


Asunto(s)
Acuaporinas/genética , Sitios Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Periodontitis/complicaciones , Trastornos de la Articulación Temporomandibular/complicaciones , Trastornos de la Articulación Temporomandibular/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Adulto Joven
4.
Acta Odontol Scand ; 78(3): 181-188, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31646926

RESUMEN

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.


Asunto(s)
Artralgia/genética , Receptor alfa de Estrógeno/genética , Receptor beta de Estrógeno/genética , Receptores Estrogénicos/genética , Trastornos de la Articulación Temporomandibular/genética , Articulación Temporomandibular/fisiopatología , Adolescente , Adulto , Animales , Artralgia/diagnóstico , Femenino , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Ratas , Ratas Wistar , Trastornos de la Articulación Temporomandibular/epidemiología
5.
PLoS One ; 14(10): e0223244, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31603905

RESUMEN

The temporomandibular joint (TMJ) is a fibrocartilaginous tissue critical for chewing and speaking. In patients with temporomandibular disorders (TMDs), permanent tissue loss can occur. Recapitulating the complexity of TMDs in animal models is difficult, yet critical for the advent of new therapies. Synovial fluid from diseased human samples revealed elevated levels of tumor necrosis factor alpha (TNF-alpha). Here, we propose to recapitulate these findings in mice by subjecting murine TMJs with TNF-alpha or CFA (Complete Freund's Adjuvant) in mandibular condyle explant cultures and by local delivery in vivo using TMJ intra-articular injections. Both TNF-alpha and CFA delivery to whole mandibular explants and in vivo increased extracellular matrix deposition and increased cartilage thickness, while TNF-alpha treated explants had increased expression of inflammatory cytokines and degradative enzymes. Moreover, the application of TNF-alpha or CFA in both models reduced cell number. CFA delivery in vivo caused soft tissue inflammation, including pannus formation. Our work provides two methods of chemically induced TMJ inflammatory arthritis through a condyle explant model and intra-articular injection model that replicate findings seen in synovial fluid of human patients, which can be used for further studies delineating the mechanisms underlying TMJ pathology.


Asunto(s)
Artritis Experimental/inmunología , Cartílago Articular/inmunología , Matriz Extracelular/inmunología , Trastornos de la Articulación Temporomandibular/inmunología , Articulación Temporomandibular/inmunología , Proteína ADAMTS5/genética , Proteína ADAMTS5/inmunología , Adolescente , Adulto , Anciano , Animales , Artritis Experimental/inducido químicamente , Artritis Experimental/genética , Cartílago Articular/efectos de los fármacos , Cartílago Articular/patología , Colágeno Tipo II/genética , Colágeno Tipo II/inmunología , Colágeno Tipo X/genética , Colágeno Tipo X/inmunología , Modelos Animales de Enfermedad , Matriz Extracelular/efectos de los fármacos , Matriz Extracelular/patología , Femenino , Adyuvante de Freund/administración & dosificación , Expresión Génica/efectos de los fármacos , Expresión Génica/inmunología , Humanos , Interleucinas/genética , Interleucinas/inmunología , Masculino , Cóndilo Mandibular/efectos de los fármacos , Cóndilo Mandibular/inmunología , Cóndilo Mandibular/patología , Ratones , Ratones Endogámicos C57BL , Persona de Mediana Edad , Líquido Sinovial/inmunología , Articulación Temporomandibular/efectos de los fármacos , Articulación Temporomandibular/patología , Trastornos de la Articulación Temporomandibular/genética , Trastornos de la Articulación Temporomandibular/patología , Técnicas de Cultivo de Tejidos , Factor de Necrosis Tumoral alfa/administración & dosificación
6.
J Craniofac Surg ; 30(7): 2082-2084, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31574782

RESUMEN

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


Asunto(s)
Factor 10 de Crecimiento de Fibroblastos/genética , Factor 3 de Crecimiento de Fibroblastos/genética , Factores de Crecimiento de Fibroblastos/genética , Polimorfismo Genético , Trastornos de la Articulación Temporomandibular/genética , Adolescente , Adulto , Artralgia , Artritis , Femenino , Humanos , Masculino , Persona de Mediana Edad , Cirugía Ortognática , Procedimientos Quirúrgicos Ortognáticos , Osteoartritis/diagnóstico , Encuestas y Cuestionarios , Trastornos de la Articulación Temporomandibular/diagnóstico , Trastornos de la Articulación Temporomandibular/cirugía , Adulto Joven
7.
J Dent Res ; 98(12): 1324-1331, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31490699

RESUMEN

Clinicians have the dilemma of prescribing opioid or nonopioid analgesics to chronic pain patients; however, the impact of pain on our endogenous µ-opioid system and how our genetic profile (specifically catechol-O-methyltransferase [COMT] polymorphisms) impacts its activation are currently unknown. Twelve chronic temporomandibular disorder (TMD) patients and 12 healthy controls (HCs) were scanned using positron emission tomography (PET) with [11C]carfentanil, a selective radioligand for µ-opioid receptors (µORs). The first 45 min of each PET measured the µOR nondisplaceable binding potential (BPND) at resting state, and the last 45 min consisted of a 20-min masseteric pain challenge with an injection of 5% hypertonic saline. Participants were also genotyped for different COMT alleles. There were no group differences in µOR BPND at resting state (early phase). However, during the masseteric pain challenge (late phase), TMD patients exhibited significant reductions in µOR BPND (decreased [11C]carfentanil binding) in the contralateral parahippocampus (P = 0.002) compared to HCs. The µOR BPND was also significantly lower in TMD patients with longer pain chronicity (P < 0.001). When considering COMT genotype and chronic pain suffering, TMD patients with the COMT 158Met substitution had higher pain sensitivity and longer pain chronicity with a 5-y threshold for µOR BPND changes to occur in the parahippocampus. Together, the TMD diagnosis, COMT 158Met substitution, and pain chronicity explained 52% of µOR BPND variance in the parahippocampus (cumulative R2 = 52%, P < 0.003, and HC vs. TMD Cohen's effect size d = 1.33 SD). There is strong evidence of dysregulation of our main analgesic and limbic systems in chronic TMD pain. The data also support precision medicine by helping identify TMD patients who may be more susceptible to chronic pain sensitivity and opioid dysfunction based on their genetic profile.


Asunto(s)
Catecol O-Metiltransferasa/genética , Dolor Crónico/genética , Receptores Opioides mu/fisiología , Trastornos de la Articulación Temporomandibular/fisiopatología , Adulto , Analgésicos Opioides , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Masculino , Umbral del Dolor , Polimorfismo de Nucleótido Simple , Tomografía de Emisión de Positrones , Trastornos de la Articulación Temporomandibular/genética , Adulto Joven
8.
PLoS One ; 14(6): e0217763, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31199837

RESUMEN

The prevalence of temporomandibular disorder (TMD) among elderly people with Parkinson's disease (PD) is relatively high, but a population-based study of the relationship between PD and TMD is still lacking. This study, therefore, sought to investigate the association between TMD and PD by using data for one million randomly sampled beneficiaries of Taiwan's National Health Insurance program, including 6,185 PD patients who were matched through propensity score matching with 18,555 non-PD patients. Both the PD and non-PD cohorts were followed until death, any diagnosis of TMD, or December 31, 2013, whichever occurred first. Each diagnosis of TMD was made by a qualified physician according to the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM), using the diagnosis codes 524.60, 524.62, 524.63, and 524.69 while excluding tooth abscess, wisdom tooth eruption, herpes zoster and postherpetic neuralgia, mastoiditis, otitis externa, otitis media, parotitis, sialadenitis, and trigeminal neuralgia. We used Cox proportional hazard regression models to calculate the relative risk of TMD and found a 2.11-fold (95% CI: 1.35-3.30) increased risk of TMD overall in the PD group compared with the non-PD group. Stratified by follow-up period, there was a 4.25-fold (95% CI: 1.51-11.93) increased risk in the PD group in the first year after the initial PD diagnosis and a 3.88-fold (95% CI: 1.33-11.28) increased risk in the second year. Over the long-term (>5 years), PD was significantly associated with an increased risk of TMD. These findings suggest that it is important to closely monitor the temporomandibular joint health of PD patients.


Asunto(s)
Modelos Biológicos , Trastornos de la Articulación Temporomandibular , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/fisiopatología , Prevalencia , Factores de Riesgo , Taiwán/epidemiología , Trastornos de la Articulación Temporomandibular/epidemiología , Trastornos de la Articulación Temporomandibular/genética , Trastornos de la Articulación Temporomandibular/fisiopatología
9.
J Craniomaxillofac Surg ; 47(5): 766-770, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30795980

RESUMEN

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.


Asunto(s)
Anquilosis/genética , Subunidad alfa del Factor 1 Inducible por Hipoxia/genética , Osteoprotegerina/genética , Ligando RANK/genética , Receptor Activador del Factor Nuclear kappa-B/genética , Trastornos de la Articulación Temporomandibular/genética , Humanos , Pacientes , Polimorfismo de Nucleótido Simple , Articulación Temporomandibular
10.
J Bone Miner Res ; 34(4): 726-738, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30496623

RESUMEN

Traumatic joint injuries produce osteoarthritic cartilage manifesting accelerated chondrocyte terminal differentiation and matrix degradation via unknown cellular and molecular mechanisms. Here we report the ability of biomechanical stress to increase expression of the calcium-sensing receptor (CaSR), a pivotal driver of chondrocyte terminal differentiation, in cultured chondrogenic cells subjected to fluid flow shear stress (FFSS) and in chondrocytes of rodent temporomandibular joint (TMJ) cartilage subjected to unilateral anterior cross-bite (UAC). In cultured ATDC5 cells or TMJ chondrocytes, FFSS induced Ca2+ loading and CaSR localization in endoplasmic reticulum (ER), casually accelerating cell differentiation that could be abrogated by emptying ER Ca2+ stores or CaSR knockdown. Likewise, acute chondrocyte-specific Casr knockout (KO) prevented the UAC-induced acceleration of chondrocyte terminal differentiation and matrix degradation in TMJ cartilage in mice. More importantly, local injections of CaSR antagonist, NPS2143, replicated the effects of Casr KO in preventing the development of osteoarthritic phenotypes in TMJ cartilage of the UAC-treated rats. Our study revealed a novel pathological action of CaSR in development of osteoarthritic cartilage due to aberrant mechanical stimuli and supports a therapeutic potential of calcilytics in preventing osteoarthritis in temporomandibular joints by targeting the CaSR. © 2018 American Society for Bone and Mineral Research.


Asunto(s)
Condrocitos , Naftalenos/farmacología , Osteoartritis , Receptores Sensibles al Calcio , Trastornos de la Articulación Temporomandibular , Articulación Temporomandibular , Animales , Condrocitos/metabolismo , Condrocitos/patología , Femenino , Masculino , Ratones , Ratones Noqueados , Osteoartritis/etiología , Osteoartritis/genética , Osteoartritis/metabolismo , Osteoartritis/prevención & control , Ratas , Ratas Sprague-Dawley , Receptores Sensibles al Calcio/antagonistas & inhibidores , Receptores Sensibles al Calcio/genética , Receptores Sensibles al Calcio/metabolismo , Articulación Temporomandibular/lesiones , Articulación Temporomandibular/metabolismo , Trastornos de la Articulación Temporomandibular/complicaciones , Trastornos de la Articulación Temporomandibular/tratamiento farmacológico , Trastornos de la Articulación Temporomandibular/genética , Trastornos de la Articulación Temporomandibular/metabolismo
11.
Pain ; 160(3): 579-591, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30431558

RESUMEN

Painful temporomandibular disorders (TMDs) are the leading cause of chronic orofacial pain, but its underlying molecular mechanisms remain obscure. Although many environmental factors have been associated with higher risk of developing painful TMD, family and twin studies support a heritable genetic component as well. We performed a genome-wide association study assuming an additive genetic model of TMD in a discovery cohort of 999 cases and 2031 TMD-free controls from the Orofacial Pain: Prospective Evaluation and Risk Assessment (OPPERA) study. Using logistic models adjusted for sex, age, enrollment site, and race, we identified 3 distinct loci that were significant in combined or sex-segregated analyses. A single-nucleotide polymorphism on chromosome 3 (rs13078961) was significantly associated with TMD in males only (odds ratio = 2.9, 95% confidence interval: 2.02-4.27, P = 2.2 × 10). This association was nominally replicated in a meta-analysis of 7 independent orofacial pain cohorts including 160,194 participants (odds ratio = 1.16, 95% confidence interval: 1.0-1.35, P = 2.3 × 10). Functional analysis in human dorsal root ganglia and blood indicated this variant is an expression quantitative trait locus, with the minor allele associated with decreased expression of the nearby muscle RAS oncogene homolog (MRAS) gene (beta = -0.51, P = 2.43 × 10). Male mice, but not female mice, with a null mutation of Mras displayed persistent mechanical allodynia in a model of inflammatory pain. Genetic and behavioral evidence support a novel mechanism by which genetically determined MRAS expression moderates the resiliency to chronic pain. This effect is male-specific and may contribute to the lower rates of painful TMD in men.


Asunto(s)
Dolor Facial/etiología , Polimorfismo de Nucleótido Simple/genética , Trastornos de la Articulación Temporomandibular/complicaciones , Trastornos de la Articulación Temporomandibular/genética , Proteínas ras/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Estudios de Cohortes , Modelos Animales de Enfermedad , Estudios de Asociación Genética , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Ratones , Ratones Noqueados , Persona de Mediana Edad , ARN Mensajero/metabolismo , Adulto Joven , Proteínas ras/deficiencia
12.
J Clin Lab Anal ; 33(1): e22641, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30129153

RESUMEN

BACKGROUND: Temporomandibular disorders (TMD) are a group of conditions that cause chronic orofacial pain. The tumor necrosis factor ß (TNF-ß) is a proinflammatory cytokine that is involved in the various aspects of the inflammatory process including organization and maintenance, and in the arrangement of cells at the inflammation site. The purpose of this study was to evaluate the correlation between TNF-ß +252A/G (rs909253) variant and susceptibility to TMD in a Turkish cohort. METHODS: The study included 104 patients (26 males, 78 females) with TMD and 126 healthy controls (44 males, 82 females). The TNF-ß +252A/G variant analysis was based on Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). RESULTS: There was no deviation from HWA for TNF-ß +252A/G variant in patient and control groups. There was significant difference in genotype and allele frequencies between patient group and control group in terms of TNF-ß +252A/G variant, respectively (P = 0.010, 0.015). A significant increase in the TNF-ß +252 AG genotype and G allele frequencies were observed in TMD patients compared to healthy controls. The individuals with GG genotype and G allele had an increased risk of developing TMD. A statistically significant association was observed when the patients were compared with the controls according to AA genotype vs AG+GG genotypes (P = 0.002, OR: 2.23, 95% CI:1.31-3.82). TNF-ß +252A/G genotype distribution was associated with chewing problems (P = 0.046). CONCLUSIONS: In conclusion, our results provided evidence that TNF-ß +252A/G variant may contribute to TMD development in a Turkish cohort. Further studies are needed to confirm this observation.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Linfotoxina-alfa/genética , Trastornos de la Articulación Temporomandibular/genética , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción/genética , Trastornos de la Articulación Temporomandibular/epidemiología , Turquia/epidemiología , Adulto Joven
13.
Orthod Craniofac Res ; 21(4): 186-201, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30204294

RESUMEN

OBJECTIVES: The aim was to review the literature regarding genetic contributions to temporomandibular joint disorder (TMD) after our 2008 publication. SETTING AND SAMPLE POPULATION: Literature review. MATERIAL AND METHODS: PubMed and MEDLINE were used to obtain literature in any language regarding genes and TMD, using the keywords "temporomandibular joint disorder" and "temporomandibular joint dysfunction" for studies published from 2009 to 2017. RESULTS: In our search, 274 studies were found. We excluded 76 studies from animal models, 22 studies that were in vitro and 120 reports that were not cohort or case-control studies. Of the 274 results, 56 articles were selected for this review. Genes that are suggested to contribute to TMD included the ones related to disc and bone alterations as well as pain sensation. CONCLUSION: Currently, no evidence of associated genetic variants, which can determine the development of TMD in individuals, could be translated to novel clinical management and public health strategies for patients suffering from TMD.


Asunto(s)
Trastornos de la Articulación Temporomandibular/genética , Síndrome de la Disfunción de Articulación Temporomandibular/genética , Animales , Bases de Datos Factuales , Humanos , Modelos Animales , Umbral del Dolor , Caracteres Sexuales , Articulación Temporomandibular , Disco de la Articulación Temporomandibular
14.
Mol Biol Rep ; 45(6): 1839-1848, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30155592

RESUMEN

Genetic variations might play a role in susceptibility to temporomandibular joint internal derangement (TMJ-ID) and osteoarthritis of the joint (TMJOA). Vitamin D receptor (VDR) polymorphisms have been shown to be associated with disc degeneration-linked pathologies, particularly osteoarthritis (OA). The aim of this study was to evaluate whether VDR polymorphisms present susceptibility to TMJ-ID/TMJOA. The study included 49 unrelated TMJ-ID patients with OA (31.7 ± 7.9) that were grouped and evaluated as having anterior disk displacement with reduction (ADDwR, n = 24) (31.58 ± 8.25) and without reduction (ADDwoR, n = 25) (31.8 ± 7.53) and 70 healthy controls (28.22 ± 5.9). DNA was extracted from blood samples using the standard proteinase K/phenol-chloroform method. Apa1 and Taq1 polymorphisms were investigated using a polymerase chain reaction-based restriction fragment length polymorphism assay. When TMJ-ID patients, ADDwR cases and ADDwoR cases versus healthy controls were compared, Apa1 Aa genotype compared to AA genotype had odds ratios of 1.65, 1.79 and 1.64 respectively (p > 0.05). In TMJ-ID women versus healthy women Aa genotype had 2.06 fold (p = 0.15) odds compared to AA genotype. Taq1 results showed that in TMJ-ID patients and ADDwoR cases the Tt genotype had odds ratios of 0.63 and 0.44 fold (p > 0.05) respectively. In TMJ-ID women the Tt and tt genotypes had odds ratios of 0.53 and 0.73 (p > 0.05). Combined VDR genotypes revealed that AATT had a 3.3 fold (p = 1.21) odds ratio while AATt had a 2.0 fold odds ratio (p = 0.29) (OR 0.59, 95% CI 0.23-1.49, p = 0.26) compared to AaTt. Although our results do not confirm susceptibility of VDR polymorphisms to TMJ-ID/TMJOA ,this relation needs to be further evaluated in a large cohort study.


Asunto(s)
Osteoartritis/genética , Receptores de Calcitriol/genética , Trastornos de la Articulación Temporomandibular/genética , Adulto , Alelos , Estudios de Cohortes , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Oportunidad Relativa , Polimorfismo Genético , Receptores de Calcitriol/fisiología , Articulación Temporomandibular/fisiología , Turquia , Vitamina D/metabolismo
15.
Sci Rep ; 8(1): 8527, 2018 06 04.
Artículo en Inglés | MEDLINE | ID: mdl-29867155

RESUMEN

Temporomandibular joint degenerative disease (TMJ-DD) is a chronic form of TMJ disorder that specifically afflicts people over the age of 40 and targets women at a higher rate than men. Prevalence of TMJ-DD in this population suggests that estrogen loss plays a role in the disease pathogenesis. Thus, the goal of the present study was to determine the role of estrogen on chondrogenesis and homeostasis via estrogen receptor alpha (ERα) during growth and maturity of the joint. Young and mature WT and ERαKO female mice were subjected to ovariectomy procedures and then given placebo or estradiol treatment. The effect of estrogen via ERα on fibrocartilage morphology, matrix production, and protease activity was assessed. In the young mice, estrogen via ERα promoted mandibular condylar fibrocartilage chondrogenesis partly by inhibiting the canonical Wnt signaling pathway through upregulation of sclerostin (Sost). In the mature mice, protease activity was partly inhibited with estrogen treatment via the upregulation and activity of protease inhibitor 15 (Pi15) and alpha-2-macroglobulin (A2m). The results from this work provide a mechanistic understanding of estradiol on TMJ growth and homeostasis and can be utilized for development of therapeutic targets to promote regeneration and inhibit degeneration of the mandibular condylar fibrocartilage.


Asunto(s)
Condrogénesis/efectos de los fármacos , Estradiol/farmacología , Receptor alfa de Estrógeno/metabolismo , Estrógenos/farmacología , Fibrocartílago/metabolismo , Cóndilo Mandibular/metabolismo , Trastornos de la Articulación Temporomandibular/metabolismo , Animales , Condrogénesis/genética , Receptor alfa de Estrógeno/genética , Femenino , Fibrocartílago/patología , Cóndilo Mandibular/patología , Ratones , Ratones Noqueados , Trastornos de la Articulación Temporomandibular/genética , Trastornos de la Articulación Temporomandibular/prevención & control , Vía de Señalización Wnt/efectos de los fármacos
16.
J Clin Lab Anal ; 32(2)2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28612927

RESUMEN

BACKGROUND: Temporomandibular joint disorders (TMD) are a group of disorders involving temporomandibular joint and related structures. Interleukine-1 receptor antagonist (IL-1Ra) is an important anti-inflammatory molecule that competes with other interleukin-1 molecules. This study was designed to investigate the possible association of the IL-1Ra VNTR variant with the risk of TMD in the Turkish population. METHODS: Peripheral blood samples were collected from 100 patients with TMD (23 males, 77 females) and 110 healthy individuals (35 males, 75 females). Genotyping of IL-1Ra 86 bp VNTR variant was evaluated by gel electrophoresis after polymerase chain reaction (PCR). RESULTS: Our results show that there is a statistically significant difference between TMD patients and control group with respect to IL-1Ra genotype distribution and allele frequencies. 1.2, 1.4, and 4.4 genotypes were more common in patients, while 2.2 and 3.3 genotypes were rarer (P<.000). Frequency of alleles 1 and 4 was higher in patient groups (P<.000), whereas alleles 2 and 3 had a lower frequency in patients with TMD (P<.000). CONCLUSIONS: This is the first correlation study that evaluates the association between IL-1Ra gene VNTR variant and TMD. The VNTR variant related to IL-1Ra gene showed a strong pattern of association with TMD that may have a potential impact on disease counseling and management. Larger studies with various ethnicities are needed to establish the impact of IL-1Ra VNTR variant on risk of developing TMD.


Asunto(s)
Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Proteína Antagonista del Receptor de Interleucina 1/genética , Repeticiones de Minisatélite/genética , Trastornos de la Articulación Temporomandibular/epidemiología , Trastornos de la Articulación Temporomandibular/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Turquia/epidemiología , Adulto Joven
17.
Pediatr Radiol ; 48(2): 279-282, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28956095

RESUMEN

Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described.


Asunto(s)
Artritis/diagnóstico por imagen , Hemosiderosis/diagnóstico por imagen , Síndromes de Inmunodeficiencia/diagnóstico por imagen , Enfermedades Pulmonares/diagnóstico por imagen , Imagen por Resonancia Magnética , Trastornos de la Articulación Temporomandibular/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Artritis/tratamiento farmacológico , Artritis/genética , Niño , Medios de Contraste , Diagnóstico Diferencial , Hemosiderosis/tratamiento farmacológico , Hemosiderosis/genética , Humanos , Síndromes de Inmunodeficiencia/tratamiento farmacológico , Síndromes de Inmunodeficiencia/genética , Enfermedades Pulmonares/tratamiento farmacológico , Enfermedades Pulmonares/genética , Masculino , Mutación Missense , Pruebas de Función Respiratoria , Trastornos de la Articulación Temporomandibular/tratamiento farmacológico , Trastornos de la Articulación Temporomandibular/genética
18.
J Oral Maxillofac Surg ; 76(2): 314.e1-314.e9, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29175417

RESUMEN

PURPOSE: The high prevalence of painful temporomandibular disorders (TMDs) in women suggests that estrogen and its receptors play a fundamental etiologic role in the development of this joint pathology through complex action mechanisms. The aim of this study was to evaluate the possible association between polymorphisms in the ESR1 (estrogen receptor-1) and ESRRB (estrogen-related receptor-ß) genes and the risk of simultaneous development of TMDs and pain in other joints in the body. MATERIALS AND METHODS: All participants were clinically evaluated for the presence of TMD (Research Diagnostic Criteria for TMD) and asked about the presence of chronic joint pain. The control group consisted of 72 patients without TMD and without pain. Participants with arthralgia were divided into 3 groups: with muscular TMD (n = 42), with articular TMD (n = 16), and without TMD and with systemic arthralgia (n = 82). Eight single-nucleotide polymorphisms in the ESR1 (rs12154178, rs1884051, rs2273206, rs7774230) and ESRRB (rs1676303, rs4903399, rs10132091, rs7151924) genes were investigated. The χ2 test and Student t and Mann-Whitney tests were used to assess the relevance of nominal and continuous variables, respectively. A P value less than .05 was considered significant. RESULTS: The TT (timin/timin) genotype for the ESR1 (rs2273206) gene was strongly associated with the risk of developing muscle TMDs and temporomandibular joint pain (P = .04). For the ESRRB (rs1676303) gene, an association was observed between the CC (cytosine/cytosine) genotype and the presence of articular TMDs associated with other chronic arthralgia (P = .02). These results were confirmed by the increased risk of developing articular TMDs associated with the C allele (P = .04). CONCLUSIONS: This study supports the hypothesis that changes in the ESR1 and ESRRB genes influence the presence of TMDs associated with chronic joint pain.


Asunto(s)
Artralgia/genética , Receptor alfa de Estrógeno/genética , Polimorfismo de Nucleótido Simple , Receptores Estrogénicos/genética , Trastornos de la Articulación Temporomandibular/genética , Adulto , Alelos , Estudios Transversales , Femenino , Genotipo , Haplotipos , Humanos , Masculino
19.
Am J Orthod Dentofacial Orthop ; 152(5): 631-645, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29103441

RESUMEN

INTRODUCTION: We investigated whether ACTN3, ENPP1, ESR1, PITX1, and PITX2 genes which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders (TMD) before and after orthodontic and orthognathic surgery treatment. METHODS: One hundred seventy-four patients with a dentofacial deformity were diagnosed as symmetric or subdivided into 4 asymmetric groups according to posteroanterior cephalometric measurements. TMD examination diagnosis and jaw pain and function (JPF) questionnaires assessed the presence and severity of TMD. RESULTS: Fifty-two percent of the patients were symmetric, and 48% were asymmetric. The asymmetry classification demonstrated significant cephalometric differences between the symmetric and asymmetric groups, and across the 4 asymmetric subtypes: group 1, mandibular body asymmetry; group 2, ramus asymmetry; group 3, atypical asymmetry; and group 4, C-shaped asymmetry. ENPP1 SNP-rs6569759 was associated with group 1 (P = 0.004), and rs858339 was associated with group 3 (P = 0.002). ESR1 SNP-rs164321 was associated with group 4 (P = 0.019). These results were confirmed by principal component analysis that showed 3 principal components explaining almost 80% of the variations in the studied groups. Principal components 1 and 2 were associated with ESR1 SNP-rs3020318 (P <0.05). Diagnoses of disc displacement with reduction, masticatory muscle myalgia, and arthralgia were highly prevalent in the asymmetry groups, and all had strong statistical associations with ENPP1 rs858339. The average JPF scores for asymmetric subjects before surgery (JPF, 7) were significantly higher than for symmetric subjects (JPF, 2). Patients in group 3 had the highest preoperative JPF scores, and groups 2 and 3 were most likely to be cured of TMD 1 year after treatment. CONCLUSIONS: Posteroanterior cephalometrics can classify asymmetry into distinct groups and identify the probability of TMD and genotype associations. Orthodontic and orthognathic treatments of facial asymmetry are effective at eliminating TMD in most patients.


Asunto(s)
Deformidades Dentofaciales/clasificación , Deformidades Dentofaciales/genética , Receptor alfa de Estrógeno/genética , Asimetría Facial/clasificación , Asimetría Facial/genética , Hidrolasas Diéster Fosfóricas/genética , Pirofosfatasas/genética , Trastornos de la Articulación Temporomandibular/genética , Adulto , Deformidades Dentofaciales/complicaciones , Deformidades Dentofaciales/cirugía , Asimetría Facial/complicaciones , Asimetría Facial/cirugía , Femenino , Genotipo , Humanos , Masculino , Procedimientos Quirúrgicos Ortognáticos , Complicaciones Posoperatorias/etiología , Índice de Severidad de la Enfermedad , Trastornos de la Articulación Temporomandibular/etiología
20.
Mol Pain ; 13: 1744806917710094, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28741410

RESUMEN

The Eighth Scientific Meeting of The TMJ Association, Ltd. was held in Bethesda, Maryland, September 11-13, 2016. As in the past, the meeting was cosponsored by components of the National Institutes of Health with speakers invited to review the state of temporomandibular disorder science and propose recommendations to further progress. The theme of precision medicine, which aims to tailor disease treatment and prevention to match the characteristics of an individual patient (genetic, epigenetic, environmental, lifestyle) underscored the current consensus that temporomandibular disorders are no longer viewed as local conditions of jaw pain and dysfunction. Rather, they represent a complex family of biopsychosocial disorders that can progress to chronic pain, most often accompanied by one or more other chronic pain conditions. Temporomandibular disorders and these comorbidities, called chronic overlapping pain conditions, predominantly or exclusively affect women in their childbearing years and reflect central nervous system sensitization. Presenters at the meeting included leaders in temporomandibular disorder and pain research, temporomandibular disorder patients and advocates, and experts in other fields or in the use of technologies that could facilitate the development of precision medicine approaches in temporomandibular disorders.


Asunto(s)
Medicina de Precisión , Trastornos de la Articulación Temporomandibular/terapia , Ensayos Clínicos como Asunto , Comorbilidad , Epigénesis Genética , Humanos , Dolor/patología , Caracteres Sexuales , Trastornos de la Articulación Temporomandibular/genética
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