Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology
IntroductionFacial morphogenesis is regulated by several cellular interactions that are mediated by numerous morphogenetic signals. Based on the existing evidence, we hypothesize that oral cleft-associated single nucleotide polymorphisms (SNPs) are involved in the normal range of human face developm...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Dental Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fdmed.2025.1546295/full |
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| author | Erika Calvano Küchler Michelle Nascimento Meger Bruna Correia Rauta Pires Svenja Beisel-Memmert Daniel Hemming Ricardo D. Coletta Rafaela Scariot Mírian Aiko Nakane Matsumoto Maria Angelica Hueb de Menezes Oliveira Christian Kirschneck Bianca Cavalcante-Leão |
| author_facet | Erika Calvano Küchler Michelle Nascimento Meger Bruna Correia Rauta Pires Svenja Beisel-Memmert Daniel Hemming Ricardo D. Coletta Rafaela Scariot Mírian Aiko Nakane Matsumoto Maria Angelica Hueb de Menezes Oliveira Christian Kirschneck Bianca Cavalcante-Leão |
| author_sort | Erika Calvano Küchler |
| collection | DOAJ |
| description | IntroductionFacial morphogenesis is regulated by several cellular interactions that are mediated by numerous morphogenetic signals. Based on the existing evidence, we hypothesize that oral cleft-associated single nucleotide polymorphisms (SNPs) are involved in the normal range of human face development. Therefore, this study aimed to investigate the association between SNPs in oral cleft-related genes and variations in the normal range of facial morphology.MethodA sample of healthy Brazilian teenagers (aged between 11 and 18 years old) were screened and collected. Frontal facial digitized photographs from orthodontic records were used to determine phenotypes, while the DNA extracted from saliva samples was used to investigate the candidate SNPs. Five oral cleft-associated SNPs in BMP2 (rs235768), BMP4 (rs17563), WNT3A (rs708111), WNT11 (rs1533767), and RUNX2 (rs1200425) were selected, and allelic discrimination analysis was performed using real-time PCR.ResultsA total of 58 individuals (27 boys and 31 girls) were included. The facial landmarks used for the facial measurements were the trichion (Tr), glabella (G), nassion (N), subnasale (Sn), labrale superior (Ls), labrale inferior (Li), gnathion (Gn), cheilon (Ch), and zygoma (Zg). rs17563 in BMP4 was associated with lip proportion, in which individuals with the homozygous GG genotype had a higher Ch-Ch:Ls-Li proportion than the heterozygous AG genotype (p = 0.034). rs1533767 in WNT11 was associated with G-Sn:Sn-Gn (p = 0.028), N-Gn:Sn-Gn (p = 0.035), and Sn-Gn:Tr-Gn (p = 0.039).ConclusionOur study supported the hypothesis that oral cleft-associated SNPs are involved in the normal range of human facial morphology. |
| format | Article |
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| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Dental Medicine |
| spelling | doaj-art-dda9e56cefcc48998d5cb261e7e945a62025-08-20T02:16:11ZengFrontiers Media S.A.Frontiers in Dental Medicine2673-49152025-04-01610.3389/fdmed.2025.15462951546295Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphologyErika Calvano Küchler0Michelle Nascimento Meger1Bruna Correia Rauta Pires2Svenja Beisel-Memmert3Daniel Hemming4Ricardo D. Coletta5Rafaela Scariot6Mírian Aiko Nakane Matsumoto7Maria Angelica Hueb de Menezes Oliveira8Christian Kirschneck9Bianca Cavalcante-Leão10Department of Orthodontics, Medical Faculty, University Hospital Bonn, Bonn, GermanySchool of Dentistry, Tuiuti University of Paraná, Curitiba, Paraná, BrazilSchool of Dentistry, Tuiuti University of Paraná, Curitiba, Paraná, BrazilDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, Bonn, GermanySchool of Dentistry, Tuiuti University of Paraná, Curitiba, Paraná, BrazilDepartment of Oral Diagnosis and Graduate Program in Oral Biology, School of Dentistry, University of Campinas, Piracicaba, São Paulo, BrazilDepartment of Stomatology, Federal University of Paraná, Curitiba, Paraná, BrazilDepartment of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, USP—São Paulo University, Ribeirão Preto, São Paulo, BrazilDepartment of Biomaterials, University of Uberaba, Uberaba, Minas Gerais, BrazilDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, Bonn, GermanySchool of Dentistry, Tuiuti University of Paraná, Curitiba, Paraná, BrazilIntroductionFacial morphogenesis is regulated by several cellular interactions that are mediated by numerous morphogenetic signals. Based on the existing evidence, we hypothesize that oral cleft-associated single nucleotide polymorphisms (SNPs) are involved in the normal range of human face development. Therefore, this study aimed to investigate the association between SNPs in oral cleft-related genes and variations in the normal range of facial morphology.MethodA sample of healthy Brazilian teenagers (aged between 11 and 18 years old) were screened and collected. Frontal facial digitized photographs from orthodontic records were used to determine phenotypes, while the DNA extracted from saliva samples was used to investigate the candidate SNPs. Five oral cleft-associated SNPs in BMP2 (rs235768), BMP4 (rs17563), WNT3A (rs708111), WNT11 (rs1533767), and RUNX2 (rs1200425) were selected, and allelic discrimination analysis was performed using real-time PCR.ResultsA total of 58 individuals (27 boys and 31 girls) were included. The facial landmarks used for the facial measurements were the trichion (Tr), glabella (G), nassion (N), subnasale (Sn), labrale superior (Ls), labrale inferior (Li), gnathion (Gn), cheilon (Ch), and zygoma (Zg). rs17563 in BMP4 was associated with lip proportion, in which individuals with the homozygous GG genotype had a higher Ch-Ch:Ls-Li proportion than the heterozygous AG genotype (p = 0.034). rs1533767 in WNT11 was associated with G-Sn:Sn-Gn (p = 0.028), N-Gn:Sn-Gn (p = 0.035), and Sn-Gn:Tr-Gn (p = 0.039).ConclusionOur study supported the hypothesis that oral cleft-associated SNPs are involved in the normal range of human facial morphology.https://www.frontiersin.org/articles/10.3389/fdmed.2025.1546295/fullfacegenespolymorphismcleft lip and/or palatecraniofacial development |
| spellingShingle | Erika Calvano Küchler Michelle Nascimento Meger Bruna Correia Rauta Pires Svenja Beisel-Memmert Daniel Hemming Ricardo D. Coletta Rafaela Scariot Mírian Aiko Nakane Matsumoto Maria Angelica Hueb de Menezes Oliveira Christian Kirschneck Bianca Cavalcante-Leão Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology Frontiers in Dental Medicine face genes polymorphism cleft lip and/or palate craniofacial development |
| title | Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology |
| title_full | Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology |
| title_fullStr | Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology |
| title_full_unstemmed | Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology |
| title_short | Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology |
| title_sort | investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non cleft facial morphology |
| topic | face genes polymorphism cleft lip and/or palate craniofacial development |
| url | https://www.frontiersin.org/articles/10.3389/fdmed.2025.1546295/full |
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