国际口腔医学杂志

国际口腔医学杂志 ›› 2024, Vol. 51 ›› Issue (6): 728-735.doi: 10.7518/gjkq.2024055

• 综述 • 上一篇    

基于全基因组关联研究的人类颌面部形态遗传学决定的研究进展

侯鑫1,2(),代杰文2()   

  1. 1.山东第二医科大学口腔医学院 潍坊 261053
    2.上海交通大学医学院附属第九人民医院口腔颅颌面科 上海交通大学口腔医学院 国家口腔医学中心国家口腔疾病临床医学研究中心 上海市口腔医学重点实验室 上海 200011
  • 收稿日期:2023-12-08 修回日期:2024-04-02 出版日期:2024-11-01 发布日期:2024-11-04
  • 通讯作者: 代杰文
  • 作者简介:侯鑫，硕士，Email：h2250045863@163.com
  • 基金资助:
    国家自然科学基金(82071097);上海市卫生健康委员会卓越项目(20234Z0006)

Advancements in genome-wide association study-based genetic analysis of human craniofacial morphology

Xin Hou1,2(),Jiewen Dai2()   

  1. 1.School of Stomatology, Shandong Second Medical University, Weifang 261053, China
    2.Dept. of Oral and Cranioma-xillofacial Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai 200011, China
  • Received:2023-12-08 Revised:2024-04-02 Online:2024-11-01 Published:2024-11-04
  • Contact: Jiewen Dai
  • Supported by:
    National Natural Science Foundation of China(82071097);Shanghai Municipal Health Commission Excellence Project(20234Z0006)

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摘要：

面部形态的内在复杂性以及多种影响面部形态的因素使人类面部特征表现出高度的特异性。随着人类基因组计划的完成和低成本、高分辨率成像系统的应用，人们越来越关注正常范围面部特征的遗传结构，并深入探索影响正常面部形态的遗传位点及面部特征的生物学机制。本文聚焦于影响人类正常面部形态的遗传关联，系统综述了基于全基因组关联研究的人类颅面部形态遗传研究进展，比较不同人群的面部遗传差异。这将有助于阐明颅面发育异常机制、促进个体面部识别技术发展并提高其安全性，以及在法医学领域根据遗传信息推断犯罪嫌疑人或失踪人员的面部外貌，为面部重建和揭示人类进化史提供参考。

关键词: 遗传学, 面部形状, 全基因组关联研究

Abstract:

The complexity of facial morphology, influenced by various factors, endows human facial features with distinctive characteristics. Following the completion of the Human Genome Project and the advent of affordable, high-resolution imaging systems, the scientific community has increasingly focused on analyzing the genetic underpinnings of normal facial features, particularly the relevant genetic loci and biological mechanisms. This paper examines the genetic associations influencing normal human facial morphology, offers a comprehensive review of the advancements in craniofacial genetics through genome-wide association studies, and assesses the facial genetic variability across different populations. This work not only elucidates the mechanisms underlying craniofacial developmental anomalies but also enhances the accuracy and security of facial recognition technologies. Furthermore, it facilitates the use of genetic data in forensic science to reconstruct facial appearances of individuals, thereby contributing to criminal investigations and advancing our understanding of human evolution.

Key words: genetics, facial shape, genome-wide association study

中图分类号: 

  • Q786

图 1

影响正常人群面部区域特征的相关基因"

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