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
Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines.
Orthod Craniofac Res. 2025 Feb;28(1):159-165. doi: 10.1111/ocr.12857. Epub 2024 Sep 18.
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.
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.
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. 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.
These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.
腭隆突（TP）是一种常见特征，其病因尚不清楚。尽管先前的研究表明存在遗传因素，但影响TP风险的基因因素仍然未知。本研究的目的是识别与TP相关的基因变异。
我们使用三维腭扫描评估了829名不同祖籍个体的TP状况。然后我们进行了全基因组关联研究（GWAS），以识别与TP相关的常见变异。我们还在整个外显子组上进行了基于基因的测试，以研究低频编码变异的作用。
我们的GWAS未识别出任何全基因组显著信号，但识别出了一些提示性关联，包括在2号、5号和17号染色体上的信号，其p值小于5×10。这些提示性位点的候选基因与正常范围的颅面特征、伴有面部和口腔畸形的综合征以及骨密度有关。我们没有发现低频编码变异影响TP风险的证据。此外，我们未能重复先前TP基因研究中发现的关联。
这些发现表明多个基因可能影响TP的发育。需要独立重复研究来证实我们的提示性关联。
