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Publications

Journal Article Epublish

PubMed: 39928610 DOI: 10.1371/journal.pone.0299660

Genome wide association study reveals novel associations with face morphology.

PLoS One 20(2):e0299660

Authors: Aamer Alshehhi, Mira Mousa, Guan K Tay, Naoufel Werghi, Habiba AlSafar

Affiliations

  • 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.
  • Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
  • Division of Psychiatry, Medical School, the University of Western Australia, Crawley, Western Australia, Australia.
  • School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia.
  • Department Electrical Engineering and Computer Science, C2PS, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
  • Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
  • Emirates Bio-Research Center, Ministry of Interior, Abu Dhabi, United Arab Emirates.

Abstract

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.

MeSH

Genome-Wide Association Study, Genome