Genome scan reveals several loci associated with torus palatinus

IF 2.4 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Orthodontics & Craniofacial Research Pub Date : 2024-09-18 DOI:10.1111/ocr.12857

Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg

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引用次数: 0

Abstract

ObjectiveTorus 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 MethodsWe 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.ResultsOur 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.ConclusionThese findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.

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基因组扫描揭示了与腭弓有关的几个基因位点

目的腭裂（TP）是一种病因不明的常见特征。尽管先前的研究表明这与遗传有关，但影响腭裂风险的遗传因素仍然未知。本研究的目的是确定与腭裂相关的遗传变异。材料与方法我们利用三维腭部扫描评估了来自不同祖先背景的 829 人的腭裂状况。然后，我们开展了一项全基因组关联研究（GWAS），以确定与 TP 相关的常见变异。我们还在整个外显子组中进行了基于基因的测试，以研究低频编码变异的作用。结果我们的全基因组关联研究没有发现任何全基因组显著信号，但发现了一些提示性关联，包括 2 号、5 号和 17 号染色体上 p 值小于 5 × 10-6 的变异。这些提示性位点上的候选基因与正常范围的颅面特征、面部和口腔畸形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，我们也未能复制之前的 TP 遗传研究中发现的关联。要证实我们的提示性关联，还需要独立的重复研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Orthodontics & Craniofacial Research 医学-牙科与口腔外科

CiteScore

5.30

自引率

3.20%

发文量

审稿时长

>12 weeks

期刊介绍： Orthodontics & Craniofacial Research - Genes, Growth and Development is published to serve its readers as an international forum for the presentation and critical discussion of issues pertinent to the advancement of the specialty of orthodontics and the evidence-based knowledge of craniofacial growth and development. This forum is based on scientifically supported information, but also includes minority and conflicting opinions. The objective of the journal is to facilitate effective communication between the research community and practicing clinicians. Original papers of high scientific quality that report the findings of clinical trials, clinical epidemiology, and novel therapeutic or diagnostic approaches are appropriate submissions. Similarly, we welcome papers in genetics, developmental biology, syndromology, surgery, speech and hearing, and other biomedical disciplines related to clinical orthodontics and normal and abnormal craniofacial growth and development. In addition to original and basic research, the journal publishes concise reviews, case reports of substantial value, invited essays, letters, and announcements. The journal is published quarterly. The review of submitted papers will be coordinated by the editor and members of the editorial board. It is policy to review manuscripts within 3 to 4 weeks of receipt and to publish within 3 to 6 months of acceptance.