Feature extraction and genetic association validation study for complex facial morphology phenotypes
10.13618/j.issn.1001-5728.2025.02.008
- VernacularTitle:复杂面部形态多维特征提取与遗传关联验证研究
- Author:
Xin SHI
1
;
Wei ZHAO
;
Zihe JIANG
;
Xinyu HOU
;
Hong FAN
;
Caixia LI
;
Wenting ZHAO
Author Information
1. 陕西师范大学计算机科学学院,陕西 西安 710119
- Publication Type:Journal Article
- Keywords:
Facial morphology;
Unsupervised clustering;
CCA;
PLSR
- From:
Chinese Journal of Forensic Medicine
2025;40(2):172-180
- CountryChina
- Language:Chinese
-
Abstract:
Objective Human facial morphology is an appearance phenotype with high heritability,high diversity,and complexity.Traditional facial morphological genetic analysis is mostly based on facial landmark measurements,using linear regression for genome-wide association studies,but this method extracts limited facial morphological feature information.This study established an extraction method for multidimensional facial representations and validated the correlation between 473 single-nucleotide polymorphisms(SNPs)previously reported to be significantly associated with facial features and facial representations in the Han Chinese population.Methods After acquiring facial 3D images,3D morphable face models and HR-net network were used to align and quantify the 3D images,obtaining high-density 3D facial point cloud data.After unsupervised clustering of the point cloud,principal component analysis was applied to reduce dimensionality and extract multidimensional morphological phenotypes for each facial region.Based on these multidimensional phenotypes,partial least squares regression(PLSR)and canonical correlation analysis(CCA)were used for genetic association analysis.Results A total of 10 SNPs were validated to be significantly associated with facial morphology in Han Chinese,of which 7 SNPs were validated by the PLSR method,2 SNPs were validated by the CCA method,and 1 SNP was validated by both methods.Conclusion Among the 10 significantly associated SNP sites,9 related facial morphological regions were consistent with previous reports in other populations,indicating that genes affecting complex facial morphology have cross-population effects.
