PDF(Pubmed)
Abstract：
Background and Objectives: irregularities in the growth and development of the jawbones can lead to misalignments of maxillary and mandibular structures, a complex condition known as skeletal malocclusion, one of the most common oral health problems. Skeletal malocclusions, particularly Class II and Class III, can significantly affect facial appearance, chewing efficiency, speech, and overall oral health, often requiring orthodontic treatment or surgery to correct. These dentofacial anomalies are influenced by genetic and environmental factors and exhibit diverse phenotypic expressions. Materials and Methods: in this study, we investigated the correlation between the rs7351083 SNP of the FBN3 gene that encodes a member of the fibrillin protein family and malocclusion risk in a group of 57 patients from Romania. Results: the results shed light on the relationship between the selected genetic marker and the investigated dentofacial disorder, revealing a positive association between the reference allele (A) and Class II and that the alternate allele (G) is associated with Class III. Conclusions: cephalometric analysis revealed no significant differences among genotypes, suggesting that while genetic factors are implicated in malocclusion, they may not directly affect cephalometric parameters or that the sample size was too small to detect these differences. The discovery of an A > T transversion in one individual with a Class II deformity underscores the genetic diversity within the population and the necessity of comprehensive genotyping to uncover rare genetic variants that might influence craniofacial development and the risk of malocclusion. This study highlights the need for larger studies to confirm these preliminary associations.
摘要：
背景和目的：颌骨生长和发育的不规则性会导致上颌骨和下颌骨结构的错位，一种被称为骨骼错牙合的复杂疾病，最常见的口腔健康问题之一。骨骼错合,特别是II类和III类，会显著影响面部外观，咀嚼效率,演讲,和整体口腔健康，通常需要正畸治疗或手术矫正。这些牙面异常受遗传和环境因素的影响，并表现出不同的表型表达。材料和方法：在这项研究中，我们调查了来自罗马尼亚的57例患者中编码原纤维蛋白蛋白家族成员的FBN3基因的rs7351083SNP与错牙合风险之间的相关性.结果：结果揭示了所选择的遗传标记与所调查的牙面部疾病之间的关系，揭示参考等位基因（A）和II类之间的正相关，并且替代等位基因（G）与III类相关。结论：头颅测量分析显示基因型之间没有显着差异，这表明虽然遗传因素与错牙合有关，它们可能不会直接影响头颅测量参数，或者样本量太小而无法检测到这些差异。在一个具有II类畸形的个体中发现A>T变性强调了种群内的遗传多样性以及全面基因分型以发现可能影响颅面发育和错牙合风险的罕见遗传变异的必要性。这项研究强调了需要更大规模的研究来确认这些初步关联。
