对欧洲人面部特征的综合全基因组关联研究增加了解释的差异,并改善了预测
Ziyi Xiong1,2,3, Yi Li4, Xianjing Liu5,6
1Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.
Nature communications
|July 16, 2025
概括
这项研究确定了253个与欧洲人面部变异相关的遗传标记,大大改善了我们对面部遗传学的理解,并使更好的面部预测成为可能. 这些发现还揭示了古老的人类面部特征.
科学领域:
- 人类遗传学 人类遗传学
- 人类测量学 人类测量学.
- 人口遗传学 人口遗传学
背景情况:
- 人类面部外观是高度可变和遗传的,但其遗传基础尚未完全理解.
- 以前的遗传研究已经确定了与面部特征相关的一些位置,但全面的理解仍然难以捉摸.
研究的目的:
- 进行一项大规模的全基因组关联研究,以确定与人类面部变异相关的遗传变异.
- 提高现代和古老人类面部特征遗传预测模型的准确性.
主要方法:
- 一项综合全基因组关联研究 (C-GWAS) 对11,662名欧洲血统的人进行了分析,从3D图像中分析了946个面部特征.
- 在188个与面部变异相关的遗传位置确定了253个单核酸多态 (SNP).
- 在一个中国队列 (9,674个人) 中进行了交叉祖先复制.
主要成果:
- 188个位点的253个未结合的SNP与面部变异有显著的关联,包括62个新位点的64个新型SNP.
- 这些SNP解释了每种特征的多达7.9%的面部变异,比之前的估计增加了2.25倍.
- 一个382-SNP模型预测了鼻子特征,AUC为0.67,用于重新识别,并提供了对古老人类面部结构的见解.
结论:
- 这项研究显著推进了对人类面部变异的遗传理解.
- 鉴定的遗传变异和预测模型为现代和古老人类的面部形态重建提供了更好的能力.
- 这些发现有助于理解人类进化和人群在面部特征上的差异.
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