Targeted next-generation sequencing for comprehensive genetic analysis of external apical root resorption during orthodontic treatment with premolar extraction in the Korean population

Abstract

Introduction: External apical root resorption (EARR) is one of the most common unfavorable consequences of orthodontic treatment and causes loss of tooth structure. The present study aimed to investigate the genetics of EARR using next-generation sequencing comprehensively.

Methods: Targeted next-generation sequencing was performed for comprehensive genetic analysis of 118 Korean orthodontic patients. The patients were divided into 2 groups on the basis of their EARR value. The association of clinical and genetic parameters with EARR was assessed using the χ2 test or t test for matched pairs, followed by Bonferroni correction and linear regression analysis. In addition, haplotype analysis and in silico prediction were conducted to evaluate functional effects.

Results: No statistically significant difference was observed between clinical and treatment-related parameters and EARR. The single nucleotide polymorphisms SPP1 rs9138 (P = 0.001) and SFRP2 rs3810765 (P = 0.04) showed only nominal significance between EARR groups. However, these 2 SNPs were not significant after Bonferroni correction for multiple testing (cutoff P = 0.05/142 = 3.52 × 10-4). Variations in SPP1 rs9138 and SFRP2 rs3810765 may be related to EARR during orthodontic treatment. In summary, not only genes related to inflammatory reactions but also those related to Wnt signaling to affect the degree of EARR during orthodontic teeth movement.