Gwas Identifies Cpt1b Genetic Variants Associated With Mandibular Prognathism

Mandibular prognathism (MP) is one of the most prevalent dentofacial deformities in clinical practice; however, its genetic basis remains largely uncharacterized. This study aimed to conduct a genome-wide association study (GWAS) to identify genetic variants associated with susceptibility to MP in a cohort of 39 participants. Participants aged between 10 and 14 years, during their peak growth period, were treated for underbite using maxillary forward traction therapy, as defined by the quantitative cervical vertebral maturation (CVM) staging method. Blood samples were collected from patients prior to treatment for whole-genome sequencing, and vertebral CT scans were performed to assess the developmental stage of the maxillary sutures. Cephalometric measurements were taken to evaluate changes in the SNA angle, ANB angle, ANS-Ptm distance, upper incisor inclination (U1/NA angle), and upper incisor protrusion (U1-NA distance) from the start to the end of treatment. Patients were divided into subgroups based on their response to maxillary forward traction therapy. Significant genomic mutation sites were statistically analyzed in the subgroup with favorable treatment outcomes. The results revealed that CPT1B mutations may explain the genetic predisposition to underbite. Our findings shed light on the genetic basis of mandibular prognathism and, for the first time, describe the role of CPT1B in mandibular growth and development.