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Supplemental material, Supplementary_Table_1 for Human permanent tooth sizes are associated with genes encoding oestrogen receptors by Arthur S Cunha, Luiza Vertuan dos Santos, Samantha Schaffer Pugsley Baratto, Zerrin Abbasoglu, Jennifer Tsi Gerber, Aleysson Paza, Mírian Aiko Nakane Matsumoto, Rafaela Scariot, Maria Bernadete Stuani and Erika Calvano Küchler in Journal of Orthodontics

O objetivo desse trabalho foi avaliar a associação de polimorfismos genéticos do RUNX2, BMP4, BMP2, TGFβ1, EGF, SMAD6, ESR1, ESR2 e PTH com variações de tamanho de dentes permanentes. Este estudo transversal foi realizado com 110 indivíduos de ambos os sexos. Os modelos de gesso foram utilizados para medir as máximas dimensões da coroa de todos os dentes permanentes totalmente irrompidos (exceto terceiros molares) na direção mésio-distal (MD) e vestíbulo-lingual (VL). O DNA foi obtido a partir das células epiteliais da mucosa oral e os polimorfismos genéticos do RUNX2 (rs59983488 e rs1200425), BMP4 (rs17563), BMP2 (rs235768 e rs1005464), TGFβ1 (rs1800470), EGF (rs4444903), SMAD6 (rs2119261 e rs3934908), ESR1 (rs2234693 e rs9340799), ESR2 (rs1256049 e rs4986938) e PTH (rs694, rs307247 e rs6256), foram genotipados por PCR em tempo real. Os dados foram submetidos à análise estatística com nível de significância de 0,05. Os polimorfismos genéticos rs59983488, rs1200425, rs17563, rs235768, rs1005464, rs1800470, rs4444903, rs2234693, rs9340799, rs1256049 e rs4986938, rs694, rs307247 foram associados a medidas dentárias MD e VL, tanto na arcada superior quanto na inferior (p < 0,05). O polimorfismo rs2119261 foi associado a variação do tamanho dentário somente nos dentes superiores (p < 0,05). No rs6256, houve associação na medida VL do canino superior esquerdo (p < 0,05). O marcador rs3934908 não foi associado a nenhuma medida dentária (p > 0,05). Por fim, este estudo mostrou que existe uma associação entre a variação no tamanho dentário com polimorfismos genéticos no RUNX2, EGF, TGFβ1, BMP2, BMP4, SMAD6, PTH, ESR1 e ESR2 indicando um possível papel desses genes no desenvolvimento dentário. The objective of this study was to evaluate the association of genetic polymorphisms in RUNX2, BMP4, BMP2, TGFβ1, EGF, SMAD6, ESR1, ESR2 and PTH with permanent tooth size (TS) variations. This cross-sectional study was carried out with 110 individuals of both sexes. Dental casts were used to measure the maximum crown dimensions of all fully erupted permanent teeth (except third molars) in the mesiodistal (MD) and buccolingual (BL) width. The DNA was obtained from the epithelial cells of the oral mucosa and the genetic polymorphisms of RUNX2 (rs59983488 and rs1200425), BMP4 (rs17563), BMP2 (rs235768 and rs1005464), TGFβ1 (rs1800470), EGF (rs4444903), SMAD6 (rs2119261 and rs3934908), ESR1 (rs2234693 and rs9340799), ESR2 (rs1256049 and rs4986938), and PTH (rs694, rs307247 and rs6256) were genotyped by real-time PCR. The data were submitted to statistical analysis with a significance level of 0.05. The genetic polymorphisms rs59983488, rs1200425, rs17563, rs235768, rs1005464, rs1800470, rs4444903, rs2234693, rs9340799, rs1256049 and rs4986938, rs694, rs307247 were associated with MD and BL TS in the maxillary and mandibular arch (p < 0.05). The polymorphism rs2119261 was associated with variation in TS only in the upper teeth (p < 0.05). In rs6256, there was an association only in the BL width of the upper left canine (p < 0.05). The rs3934908 was not associated with any TS (p > 0.05). Finally, this study showed that there is an association between variation in TS with genetic polymorphisms in RUNX2, EGF, TGFβ1, BMP2, BMP4, SMAD6, PTH, ESR1, and ESR2 indicating a possible role of these genes in tooth development.

Introduction. The bifid mandibular condyle (BMC) is an unusual temporomandibular joint (TMJ) disorder with controversial etiology. The association of this entity with ankylosis is rare. Objective. The objective of the present study is to report a case of BMC with associated TMJ ankylosis in a patient with no history of trauma and/or infection. Case Report. A 17-year-old male patient sought care reporting pain on the right TMJ region and mastication difficulty due to a severe limitation of mouth opening. In the clinic and imaging examinations, a 15 mm mouth opening and BMC associated with ankylotic mass of the right TMJ were observed, besides a facial asymmetry with chin deviation to the right. The proposed treatment plan was condylectomy on the right side, bilateral coronectomy, and genioplasty, so the chin lateral deviation could be corrected, under general anesthesia. The patient remains under clinical and imaging follow-up of two years with functional stability and no signs of relapse of the ankylosis. Conclusion. The association of BMC with ankylosis is an atypical entity which must be diagnosed and treated early to prevent aesthetic and functional damages to the patient.

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 (ERβ). Also, we included an animal model to check if ERα and ERβ 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 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 ERβ 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.