骨形态发生蛋白2基因rs1005464与下颌髁突大小变异有关。

BMP2 rs1005464 is associated with mandibular condyle size variation.

作者信息

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

机构信息

Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rua. Prof. Rodolpho Paulo Rocco, 325 - Cidade Universitária da Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, 21941-617, Brazil.

Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Avenida do Café, s/n., Ribeirão Preto, São Paulo, 14040-904, Brazil.

出版信息

Sci Rep. 2024 Mar 12;14(1):5987. doi: 10.1038/s41598-024-56530-3.

Abstract

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.

摘要

本研究旨在评估软骨内发育相关基因中的单核苷酸多态性(SNP)与下颌髁突的形状、大小、体积及对称性特征之间的关联。对118名个体(年龄范围:15 - 66岁)的锥形束计算机断层扫描图像和基因组DNA进行了评估。来自下颌髁突上12个三维地标数据被用于形态计量学分析,包括普氏叠加分析、主成分分析以及质心大小和波动不对称分数的估计。此外,还测量了髁突体积。对BMP2、BMP4、RUNX2和SMAD6基因中的7个SNP进行了基因分型。采用线性模型评估SNP对下颌髁突定量特征的影响。在对多重检验导致的错误发现率进行校正后,仅BMP2基因的rs1005464与质心大小之间的关联仍具有显著性。携带该SNP至少一个A等位基因的个体,其髁突尺寸大于常见纯合子GG(β = 0.043;95%置信区间:0.014 - 0.071;P值 = 0.028)。包含BMP2 rs1005464、参与者年龄和性别的模型解释了髁突大小变异的17%。形状、体积和对称性与所评估的SNP无关联。这些结果表明,BMP2 rs1005464可能与下颌髁突大小的变异有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ab9/10933287/128f715d4d31/41598_2024_56530_Fig1_HTML.jpg

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