Constant Marion, Nicot Romain, Vieira Alexandre R, Raoul Gwenael, Sciote James J, Ferri Joel
Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, F-59000 Lille, France.
Department of Oral Biology, University of Pittsburgh School of Dental Medicine, 3501 Terrace St, Pittsburgh PA 15261, USA.
J Craniomaxillofac Surg. 2017 Jun;45(6):826-830. doi: 10.1016/j.jcms.2017.02.020. Epub 2017 Mar 8.
Bone remodeling is essential in maintaining bone health. Considering that ENPP1 contributes to bone geometry and bone mineralization, the aim of our study was to analyze the association between single-nucleotide polymorphisms (SNPs) of ENPP1 and condylar remodeling.
A total of 156 patients undergoing orthodontic and maxillofacial surgery treatment for correction of malocclusion were included in this prospective study. Saliva samples from all subjects were used for DNA extraction and genotyping. Four ENPP1 SNPs were selected and tested to determine whether specific allelic variants are correlated with condylar remodeling. The criteria of condylar remodeling chosen were the ratio between each side of condylar height or surface differences on a dental panoramic of each patient. A diagnostic threshold was set at 15% difference between both sides.
The ENPP1 SNP rs9373000 showed a statistically significant association with condylar height ratio >15% (p = 0.012). The GG genotype was found to be a protective factor against condylar height decrease (p = 0.003).
This study identifies the genetic variant rs9373000 as a potentially causal variant for mandibular condyle geometry variation for patients presenting with dento-facial deformities.
骨重塑对于维持骨骼健康至关重要。鉴于ENPP1对骨几何形状和骨矿化有影响，本研究旨在分析ENPP1单核苷酸多态性（SNP）与髁突重塑之间的关联。
本前瞻性研究纳入了156例接受正畸和颌面外科治疗以矫正错牙合畸形的患者。所有受试者的唾液样本用于DNA提取和基因分型。选择并检测了4个ENPP1 SNP，以确定特定等位基因变体是否与髁突重塑相关。所选髁突重塑标准为每位患者牙全景片上髁突高度或表面差异两侧的比值。诊断阈值设定为两侧相差15%。
ENPP1 SNP rs9373000与髁突高度比值>15%存在统计学显著关联（p = 0.012）。发现GG基因型是防止髁突高度降低的保护因素（p = 0.003）。
本研究确定基因变体rs9373000是牙颌面畸形患者下颌髁突几何形状变异的潜在因果变体。
