Polymorphisms in SOX2/FGFR1 are associated with skeletal class III maxillary and mandibular dimensions: A preliminary study

Abstract

Objectives: The aim of the present study was to assess the association between class III malocclusion and genetic polymorphisms in two genes: SOX2 (rs4434184) and FGFR1 (rs881301). Methods: A total of 60 patients, 30 with skeletal class I and 30 with skeletal class III malocclusion, were included in this study. Salivary DNA samples were collected and analyzed with Sanger sequencing. Digital tracing was performed on lateral cephalometric radiographs loaded into AutoCAD software (Version 2017) to assess the anteroposterior and vertical relationships of the maxillary and mandibular arches. Genotype distribution was compared between groups with the chi-square test to assess HardyeWeinberg equilibrium. Multiple logistic regression analysis was conducted. Results: The SOX2 rs4434184 polymorphism was associated with longer mandibular length. In contrast, shorter maxillary length, longer mandibular length, and hypodivergent face were correlated with the rs881301 polymorphism in FGFR1. New polymorphisms, including FGFR1 rs881300, rs881299, and rs7829058, have been identified in association with various phenotypes. Notably, rs881300 and rs7829058 displayed a substantial association with skeletal class III, whereas rs881299 revealed a significant association with a hypodivergent face and longer mandibular anteroposterior length. Conclusions: A potential association was observed between class III skeletal malocclusion-related traits and polymorphisms of SOX2 (rs4434184) and FGFR1 (rs881301, rs881300, rs881299, and rs7829058). This finding holds promise for enhancing skeletal prediction and informing orthodontic treatment planning.