Orthodontics & craniofacial research · 2024
Genome scan reveals several loci associated with torus palatinus.
СтатьяНазвание и аннотация: Перевод в очереди
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Lee Myoung Keun, El Sergani Ahmed M, Herrick Noah, Green Rebecca M, Padilla Carmencita, Buxó Carmen J, Long Ross E, Valencia-Ramirez Consuelo, Muñeton Claudia P Restrepo, Moreno Uribe Lina M, Adeyemo Wasiu L, Butali Azeez, Marazita Mary L, Shaffer John R, Weinberg Seth M
Аннотация
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 × 10-6. Candidate genes at these suggestive loci have been implicated in normal-range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low-frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP.
CONCLUSION: These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.
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 × 10-6. Candidate genes at these suggestive loci have been implicated in normal-range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low-frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP.
CONCLUSION: These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.