BMP2 rs1005464 is associated with mandibular condyle size variation

• Published in: Scientific reports Vol. 14; no. 1; p. 5987
• Main Authors: Marañón-Vásquez, Guido Artemio, de Souza Araújo, Mônica Tirre, de Oliveira Ruellas, Antônio Carlos, Matsumoto, Mírian Aiko Nakane, Figueiredo, Marcio, Meyfarth, Sandra Regina Santos, Antunes, Lívia Azeredo Alves, Baratto-Filho, Flares, Scariot, Rafaela, Flores-Mir, Carlos, Kirschneck, Christian, Santos Antunes, Leonardo, Küchler, Erika Calvano
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12-03-2024; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/205; 692/53/2423; 692/698/1671/1354; 692/698/3008; Adolescent; Adult; Aged; Alleles; Asymmetry; Bone Morphogenetic Protein 2; Cbfa-1 protein; Computed tomography; Cone-Beam Computed Tomography - methods; Fluctuating asymmetry; Genotype; Homozygotes; Humanities and Social Sciences; Humans; Malocclusion; Mandible; Mandibular Condyle; Middle Aged; multidisciplinary; Principal components analysis; Science; Science (multidisciplinary); Single-nucleotide polymorphism; Symmetry; Variation; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-024-56530-3

This study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) in endochondral development-related genes and mandibular condyle shape, size, volume, and symmetry traits. Cone-beam Computed Tomographies and genomic DNA from 118 individuals were evaluated (age range: 15–66 years). Data from twelve 3D landmarks on mandibular condyles were submitted to morphometric analyses including Procrustes fit, principal component analysis, and estimation of centroid sizes and fluctuating asymmetry scores. Condylar volumes were additionally measured. Seven SNPs across
BMP2
,
BMP4
,
RUNX2
and
SMAD6
were genotyped. Linear models were fit to evaluate the effect of the SNPs on the mandibular condyles’ quantitative traits. Only the association between
BMP2
rs1005464 and centroid size remained significant after adjusting to account for the false discovery rate due to multiple testing. Individuals carrying at least one A allele for this SNP showed larger condylar size than common homozygotes GG (β = 0.043; 95% CI: 0.014—0.071;
P
value = 0.028). The model including
BMP2
rs1005464, age and sex of the participants explained 17% of the variation in condylar size. Shape, volume, and symmetry were not associated with the evaluated SNPs. These results suggest that
BMP2
rs1005464 might be associated with variation in the mandibular condyles size.