Alshehhi Aamer, Mousa Mira, Tay Guan K, Werghi Naoufel, AlSafar Habiba
Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
PLoS One. 2025 Feb 10;20(2):e0299660. doi: 10.1371/journal.pone.0299660. eCollection 2025.
Genome-wide association studies (GWAS) on the Middle Eastern population, including the United Arab Emirates (UAE), have been relatively limited. The present study aims to investigate genotype-face morphology associations in the UAE population through Genome Wide Association Studies (GWAS). Phenotypic data (44 face measurements) from 172 Emiratis was obtained through three-dimensional (3D) scanning technology and an automatic face landmarking technique. GWAS analysis revealed associations of 19 genetic loci with six face features, 14 of which are novel. The GWAS analysis revealed 11 significant relationships between 44 face parameters and 242 SNPs, exceeding the GWAS significance threshold. These phenotypes were previously associated with body height, craniofacial defects, and facial characters. The most significant associations of these genetic variations were related to six main facial features which were facial convexity, left orbital protrusion, mandibular contour, nasolabial angle D, inferior facial angle B, and inferior facial angle A. To the best of our knowledge, this is the first GWAS study to investigate the association of SNP variations with face morphology in the Middle Eastern population.
包括阿拉伯联合酋长国（阿联酋）在内的中东人群的全基因组关联研究（GWAS）相对有限。本研究旨在通过全基因组关联研究（GWAS）调查阿联酋人群中基因型与面部形态的关联。通过三维（3D）扫描技术和自动面部地标定位技术，获得了172名阿联酋人的表型数据（44项面部测量）。GWAS分析揭示了19个基因位点与六种面部特征的关联，其中14个是新发现的。GWAS分析揭示了44个面部参数与242个单核苷酸多态性（SNP）之间的11个显著关系，超过了GWAS显著性阈值。这些表型以前与身高、颅面缺陷和面部特征有关。这些基因变异最显著的关联与六个主要面部特征有关，即面部凸度、左眶突出度、下颌轮廓、鼻唇角D、下面部角B和下面部角A。据我们所知，这是第一项调查中东人群中SNP变异与面部形态关联的GWAS研究。
