Related Experiment Video
Updated: May 9, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology
Erika Calvano Küchler1, Michelle Nascimento Meger2, Bruna Correia Rauta Pires2
1Department of Orthodontics, Medical Faculty, University Hospital Bonn, Bonn, Germany.
Introduction:
Facial 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.
Method:
A 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.
Results:
A 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).
Conclusion:
Our study supported the hypothesis that oral cleft-associated SNPs are involved in the normal range of human facial morphology.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pleiotropy
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Multi-species Conserved Sequences
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...

