Genome scan reveals several loci associated with torus palatinus.

• Tác giả: Wasiu L Adeyemo, Azeez Butali, Carmen J Buxó, Ahmed M El Sergani, Rebecca M Green, Noah Herrick, Myoung Keun Lee, Ross E Long, Mary L Marazita, Lina M Moreno Uribe, Claudia P Restrepo Muñeton, Carmencita Padilla, John R Shaffer, Consuelo Valencia-Ramirez, Seth M Weinberg
• Ngôn ngữ: eng
• Ký hiệu phân loại: 023.2 Professional positions
• Thông tin xuất bản: England : Orthodontics & craniofacial research , 2025
• Bộ sưu tập: NCBI
• ID: 677351

Tóm tắt

OBJECTIVE: Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP. MATERIALS AND METHODS: We assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome-wide association study (GWAS) to identify common variants associated with TP. We also performed gene-based tests across the exome to investigate the role of low-frequency coding variants. RESULTS: Our GWAS did not identify any genome-wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with p-values less than 5 × 10 CONCLUSION: These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.