BMP2 rs1005464 is associated with mandibular condyle size variation.

Area of Science:

• Genetics
• Anthropology
• Biomedical Engineering

Background:

• Mandibular condyle morphology is crucial for jaw function and facial aesthetics.
• Genetic factors are known to influence skeletal development, but their specific role in condyle variation requires further investigation.

Purpose of the Study:

• To investigate the association between single nucleotide polymorphisms (SNPs) in genes related to endochondral development and quantitative traits of the mandibular condyle.
• To determine if specific SNPs influence mandibular condyle shape, size, volume, or symmetry.

Main Methods:

• Cone-beam Computed Tomography (CBCT) and genomic DNA were analyzed from 118 individuals.
• Morphometric analyses, including Procrustes fit and principal component analysis, were performed on 3D landmarks of the mandibular condyles.
• Seven SNPs in BMP2, BMP4, RUNX2, and SMAD6 genes were genotyped, and their association with condylar traits was evaluated using linear models.

Main Results:

• A significant association was found between the BMP2 rs1005464 SNP and mandibular condyle centroid size.
• Individuals with at least one A allele for BMP2 rs1005464 exhibited larger condylar size compared to GG homozygotes.
• The BMP2 rs1005464 SNP, along with age and sex, explained 17% of the variation in condylar size. No significant associations were found for shape, volume, or symmetry.

Conclusions:

• The BMP2 rs1005464 SNP may be associated with variations in mandibular condyle size.
• This study highlights a potential genetic marker influencing condyle dimensions, contributing to our understanding of craniofacial development.