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Updated: Jan 8, 2026

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Quantification of Orofacial Phenotypes in Xenopus
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接近NOG和SOX9的变体与下逆视障相关
E Juuri1,2, S Strausz1,2,3,4, Md R Hasan1
1Orthodontics, Deparment of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Journal of dental research
|December 17, 2025
概括
遗传因素有助于下逆转,这是一个常见的面异常. 全基因组关联研究确定了关键的遗传位置,特别是在女性身上,突出了NOG和SOX9在发育中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 面生物学 面生物学
- 人类发展 人类发展
背景情况:
- retrognathia是一种常见的面异常,影响口腔功能和美学.
- 它的遗传成分是公认的,但确切的遗传病因学仍然不太清楚.
- 了解遗传基础对于阐明原因和潜在干预措施至关重要.
研究的目的:
- 为了识别与下逆转相关的遗传位置.
- 为了阐明这种骨异常的潜在遗传原因.
- 探索监管元素在面发育中的作用.
主要方法:
- 全基因组关联研究 (GWAS) 使用FinnGen队列 (2,647例,497,020对照).
- 在一个独立的冰岛队列中进行复制分析.
- 单核酸多态 (SNP) 的功能注释和Nog淘汰赛小鼠的形态分析.
主要成果:
- GWAS发现了两个显著的位点:NOG (rs227727) 和SOX9 (rs7225448),主要在雌性中.
- rs227727破坏了调节NOG的增强剂,这是一种对骨和软骨发育至关重要的基因.
- 诺格淘汰赛小鼠表现出类似下逆转的特征;SOX9变体接近于软骨发育所必需的调节元素.
- 芬兰下逆转的区域患病率与rs227727风险等位基因相关.
结论:
- 遗传因素,包括NOG和SOX9附近的调节因素,对下逆转有很大影响.
- 这些发现强调了长期调节因素在面发育中的重要性.
- 遗传,功能和流行病学数据的整合促进了对面异常遗传学的理解.
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