RESUMEN
Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%-80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Although NSCL/P and NSCPO are considered etiologically distinct, recent evidence suggests the presence of shared genetic risks. Thus, we investigated the genetic overlap between NSCL/P and NSCPO using African genome-wide association study (GWAS) data on NSOFCs. These data consist of 814 NSCL/P, 205 NSCPO cases, and 2159 unrelated controls.â¯We generated common single-nucleotide variants (SNVs) association summary statistics separately for each phenotype (NSCL/P and NSCPO) under an additive genetic model. Subsequently, we employed the pleiotropic analysis under the composite null (PLACO) method to test for genetic overlap. Our analysis identified two loci with genome-wide significance (rs181737795 [p = 2.58E-08] and rs2221169 [p = 4.5E-08]) and one locus with marginal significance (rs187523265 [p = 5.22E-08]). Using mouse transcriptomics data and information from genetic phenotype databases, we identified MDN1, MAP3k7, KMT2A, ARCN1, and VADC2 as top candidate genes for the associated SNVs. These findings enhance our understanding of genetic variants associated with NSOFCs and identify potential candidate genes for further exploration.
RESUMEN
BACKGROUND: Zirconia is a widely used material in the dental industry due to its excellent mechanical and aesthetic properties. Recently, a new 3D printing process called suspension-enclosing projection stereolithography (SEPS) was introduced to fabricate zirconia dental restorations. However, the effect of the sintering time and temperature on the properties of zirconia produced via SEPS has not been fully investigated. METHODS: Zirconia slurries were prepared with varying percentages of zirconia powders and 3D printing resins, and 5Y-TZP (5 mol% yttria-stabilized zirconia) (n = 40) and 3Y-TZP (3 mol% yttria-stabilized zirconia) (n = 40) bar specimens were fabricated via SEPS manufacturing. The specimens were sintered at different temperatures and dwell times, and their flexural strength, density, and phase composition were measured. The viscosity of the slurries was also measured. Statistical analysis was performed using Welch's ANOVA and Kruskal-Wallis tests to evaluate the impact of the sintering conditions. RESULTS: Significant differences in flexural strength (p < 0.01) were observed between the 5Y-TZP samples, with those sintered at 1530 °C for 120 min showing an average strength of 268.34 ± 44.66 MPa, compared to 174.16 ± 42.29 MPa for those sintered at 1450 °C for 120 min. In terms of density, significant differences (p < 0.01) were noted for the 3Y-TZP specimens, with an average density of 6.66 ± 0.49 g/cm3 for samples sintered at 1530 °C for 120 min, versus 5.75 ± 0.55 g/cm3 for those sintered at 1530 °C for 10 min. X-ray diffraction confirmed the presence of a predominantly tetragonal phase in both materials. CONCLUSIONS: Zirconia printed via SEPS manufacturing can be sintered at a higher temperature with shorter dwell times, thereby producing high density samples. Different sintering conditions can be used to fully sinter 3D-printed zirconia for potential dental applications.