Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study
Abstract Background Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12887-025-05444-8 |
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| author | Gabriela Fonseca-Souza Lhorrany Alves-Souza Maria Angélica Hueb de Menezes-Oliveira Nikolaos Daratsianos Svenja Beisel-Memmert Christian Kirschneck Rafaela Scariot Juliana Feltrin-Souza Erika Calvano Küchler |
| author_facet | Gabriela Fonseca-Souza Lhorrany Alves-Souza Maria Angélica Hueb de Menezes-Oliveira Nikolaos Daratsianos Svenja Beisel-Memmert Christian Kirschneck Rafaela Scariot Juliana Feltrin-Souza Erika Calvano Küchler |
| author_sort | Gabriela Fonseca-Souza |
| collection | DOAJ |
| description | Abstract Background Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations. Methods Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study. DA was evaluated by calibrated examiners (kappa > 0.80) using the method proposed by Demirjian et al. (1973). Genomic DNA was extracted from buccal cells, and SNPs in Epidermal Growth Factor (EGF) – rs4444903 and rs2237051, Epidermal Growth Factor Receptor (EGFR) – rs2227983 –, Transforming Growth Factor Beta 1 (TGFB1) – rs1800470 and rs4803455 –, and Transforming Growth Factor Beta Receptor 2 (TGFBR2) – rs3087465 – were genotyped by real-time polymerase chain reactions using the TaqMan assay. The Student T-test was used to compare the variations in DA between the phenotypes “with CL ± P” and “without CL ± P”, and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). A post-hoc analysis was performed using Bonferroni correction. Results Two hundred and nine (n = 209) children (100 with CL ± P and 109 without CL ± P) with a mean chronological age of 8.66 years – standard deviation (SD) = 1.92 – were included. The group with CL ± P demonstrated a significantly delayed DA (mean=-0.23; SD = 0.71) compared to the group without CL ± P (mean=-0.01; SD = 0.88) (p = 0.049). Genotype distributions were in Hardy-Weinberg equilibrium. The SNP rs4803455 in TGFB1 was significantly associated with DA variations in children without CL ± P (p < 0.01). In the group with CL ± P, no significant differences in DA were observed among the genotypes. Conclusion Children with CL ± P presented delayed DA compared with children without CL ± P. The SNP rs4803455 in TGFB1 is associated with variations in DA in children without CL ± P. |
| format | Article |
| id | doaj-art-c4b079f700a7468fb7c0ed14f012b63e |
| institution | Kabale University |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-01-01 |
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| series | BMC Pediatrics |
| spelling | doaj-art-c4b079f700a7468fb7c0ed14f012b63e2025-02-02T12:42:56ZengBMCBMC Pediatrics1471-24312025-01-012511810.1186/s12887-025-05444-8Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional studyGabriela Fonseca-Souza0Lhorrany Alves-Souza1Maria Angélica Hueb de Menezes-Oliveira2Nikolaos Daratsianos3Svenja Beisel-Memmert4Christian Kirschneck5Rafaela Scariot6Juliana Feltrin-Souza7Erika Calvano Küchler8Department of Stomatology, Federal University of ParanáDepartment of Biomaterials, University of UberabaDepartment of Biomaterials, University of UberabaDepartment of Orthodontics, University Hospital Bonn, Medical FacultyDepartment of Orthodontics, University Hospital Bonn, Medical FacultyDepartment of Orthodontics, University Hospital Bonn, Medical FacultyDepartment of Stomatology, Federal University of ParanáDepartment of Stomatology, Federal University of ParanáDepartment of Orthodontics, University Hospital Bonn, Medical FacultyAbstract Background Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations. Methods Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study. DA was evaluated by calibrated examiners (kappa > 0.80) using the method proposed by Demirjian et al. (1973). Genomic DNA was extracted from buccal cells, and SNPs in Epidermal Growth Factor (EGF) – rs4444903 and rs2237051, Epidermal Growth Factor Receptor (EGFR) – rs2227983 –, Transforming Growth Factor Beta 1 (TGFB1) – rs1800470 and rs4803455 –, and Transforming Growth Factor Beta Receptor 2 (TGFBR2) – rs3087465 – were genotyped by real-time polymerase chain reactions using the TaqMan assay. The Student T-test was used to compare the variations in DA between the phenotypes “with CL ± P” and “without CL ± P”, and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). A post-hoc analysis was performed using Bonferroni correction. Results Two hundred and nine (n = 209) children (100 with CL ± P and 109 without CL ± P) with a mean chronological age of 8.66 years – standard deviation (SD) = 1.92 – were included. The group with CL ± P demonstrated a significantly delayed DA (mean=-0.23; SD = 0.71) compared to the group without CL ± P (mean=-0.01; SD = 0.88) (p = 0.049). Genotype distributions were in Hardy-Weinberg equilibrium. The SNP rs4803455 in TGFB1 was significantly associated with DA variations in children without CL ± P (p < 0.01). In the group with CL ± P, no significant differences in DA were observed among the genotypes. Conclusion Children with CL ± P presented delayed DA compared with children without CL ± P. The SNP rs4803455 in TGFB1 is associated with variations in DA in children without CL ± P.https://doi.org/10.1186/s12887-025-05444-8Cleft lipCleft palateTooth abnormalitiesAnodontiaAge determination by teethPolymorphism, genetic |
| spellingShingle | Gabriela Fonseca-Souza Lhorrany Alves-Souza Maria Angélica Hueb de Menezes-Oliveira Nikolaos Daratsianos Svenja Beisel-Memmert Christian Kirschneck Rafaela Scariot Juliana Feltrin-Souza Erika Calvano Küchler Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study BMC Pediatrics Cleft lip Cleft palate Tooth abnormalities Anodontia Age determination by teeth Polymorphism, genetic |
| title | Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study |
| title_full | Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study |
| title_fullStr | Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study |
| title_full_unstemmed | Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study |
| title_short | Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study |
| title_sort | polymorphisms and dental age in non syndromic cleft lip and palate a cross sectional study |
| topic | Cleft lip Cleft palate Tooth abnormalities Anodontia Age determination by teeth Polymorphism, genetic |
| url | https://doi.org/10.1186/s12887-025-05444-8 |
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