The aim of the present study was to assess if genetic polymorphisms in tooth agenesis (TA)-related genes are associated with craniofacial morphological patterns. This cross-sectional, multi-center, genetic study evaluated 594 orthodontic Brazilians patients. The presence or absence of TA was determined by analysis of panoramic radiography. The patients were classified according to their skeletal malocclusion and facial growth pattern by means of digital cephalometric analysis. Genomic DNA was extracted from squamous epithelial cells of buccal mucosa and genetic polymorphisms in MSX1 (rs1042484), PAX9 (rs8004560), TGF-α (rs2902345), FGF3 (rs1893047), FGF10 (rs900379), and FGF13 (rs12838463, rs5931572, and rs5974804) were genotyped by polymerase chain reaction using TaqMan chemistry and end-point analysis. Genotypes (p = 0.038) and allele (p = 0.037) distributions for the FGF3 rs1893047 were significantly different according to the skeletal malocclusion. Carrying at least one G allele increased in more than two times the chance of presenting skeletal class III malocclusion (OR = 2.21, CI 95% = 1.14–4.32; p = 0.017). There was no association between another skeletal craniofacial pattern and some polymorphism assessed in the present study. Our results suggest that the genetic polymorphism rs1893047 in FGF3 might contribute to variations in the craniofacial sagittal pattern.

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颅面形态学模式与牙齿发育不全相关基因之间的关联

本研究的目的是评估牙齿发育不全（TA）相关基因中的遗传多态性是否与颅面部形态学模式相关。这项横断面，多中心，遗传研究评估了594名正畸巴西人患者。通过全景射线照相分析确定TA的存在与否。通过数字头颅测量分析根据患者的骨骼错合和面部生长方式对患者进行分类。从颊黏膜鳞状上皮细胞提取基因组DNA，并在MSX1（rs1042484），PAX9（rs8004560），TGF-α（rs2902345），FGF3（rs1893047），FGF10（rs900379）和FGF13（rs12838463，rs5931572， rs5974804）使用TaqMan化学和终点分析通过聚合酶链式反应进行基因分型。基因型（p = 0.038）和等位基因（p = 0。037）FGF3 rs1893047的分布因骨骼错合而异。携带至少一个G等位基因的机会增加了两倍以上出现骨骼III类错牙合的机会（OR = 2.21，CI 95％= 1.14–4.32； p = 0.017）。在本研究中评估的另一种颅骨颅面模式与某些多态性之间没有关联。我们的结果表明，FGF3中的遗传多态性rs1893047可能有助于颅面矢状位模式的变化。在本研究中评估的另一种颅骨颅面模式与某些多态性之间没有关联。我们的结果表明，FGF3中的遗传多态性rs1893047可能有助于颅面矢状位模式的变异。在本研究中评估的另一种颅骨颅面模式与某些多态性之间没有关联。我们的结果表明，FGF3中的遗传多态性rs1893047可能有助于颅面矢状位模式的变化。